About Enhancer

Enhancer ID: E_02_0835
Species: human
Position : chr2:202120390-202125986
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Breast cancer
Pubmed ID:  26795348
Enhancer experiment: PCR,Luciferase Reporter Assay,ChIP-seq
Enhancer experiment description: Variants rs3769823, rs3769821, and rs10197246 were chosen to investigate for ability to affect enhancer activity. To create the enhancer constructs, we performed PCR using genomic DNA from T-47D, which is homozygous for risk alleles at all three SNPs, and MCF10A, which is homozygous for neutral alleles, using the following primer pairs.

About Target gene

Target gene : CASP8(ALPS2B,CAP4,Casp-8,FLICE,MACH,MCH5)
Strong evidence: --
Less strong evidence: DNase I Hypersensitivity Assay
Target gene experiment description: To prioritize further, we used expression-quantitative trait locus analysis of RNA sequencing from breast tissues, gene regulation annota_x0002_tions from the ENCODE consortium, and functional assays for differential enhancer activities. Notably, we implicate three regulatory variants at 2q33 that target CASP8 (rs3769823, rs3769821 in CASP8, and rs10197246 in ALS2CR12) as func_x0002_tionally relevant.

About TF

TF name : STAT3(ADMIO,ADMIO1,APRF,HIES)MYC(MRTLC,bHLHe39,c-Myc,MYC)CTCF(MRD21)
TF experiment: DNase I Hypersensitivity Assay,ChIP-seq
TF experiment description: The first two reside 435 bp apart in a promoter proximal region that exhibits DNAse I hypersensitivity in mammary epithelial and breast cancer cell lines, and binds multiple transcription factors(STAT3, MYC, Pol2, and CTCF) based on ENCODE data (22).Also notable are results from an eQTL study in blood (23),indicating highly significant decreased CASP8 expression associ_x0002_ated with these cFSVs and suggesting the expression signature is also readily observed in blood.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:		 --

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
STAT3 AndrogenReceptor netpath 167
STAT3 Angiogenesis panther 141
STAT3 Association of TriC/CCT with target proteins during biosynthesis reactome 39
STAT3 BCR netpath 161
STAT3 BMP2 signaling pathway(through Smad) ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 13
STAT3 CXCR4-mediated signaling events pid 87
STAT3 Downstream signal transduction reactome 29
STAT3 EGF receptor signaling pathway panther 109
STAT3 EGFR1 netpath 475
STAT3 EPO signaling pathway(JAK2 STAT1 STAT3 STAT5) ( EPO signaling pathway(JAK2 STAT1 STAT3 STAT5) ) inoh 12
STAT3 ErbB1 downstream signaling pid 105
STAT3 ErbB2/ErbB3 signaling events pid 41
STAT3 FGF signaling pathway pid 55
STAT3 Gene expression of SOCS by STAT dimer ( JAK-STAT pathway and regulation pathway Diagram ) inoh 14
STAT3 Gene expression of SOCS1 by STAT dimer ( JAK-STAT pathway and regulation pathway Diagram ) inoh 8
STAT3 Gene expression of SOCS3 by STAT dimer ( JAK-STAT pathway and regulation pathway Diagram ) inoh 8
STAT3 GMCSF-mediated signaling events pid 38
STAT3 Growth hormone receptor signaling reactome 24
STAT3 IFN-gamma pathway pid 43
STAT3 IFN alpha signaling pathway(JAK1 TYK2 STAT1 STAT3) ( IFN alpha signaling(JAK1 TYK2 STAT1 STAT2 STAT3) ) inoh 19
STAT3 IFN alpha signaling pathway(JAK1 TYK2 STAT3) ( IFN alpha signaling(JAK1 TYK2 STAT1 STAT2 STAT3) ) inoh 18
STAT3 IL-10 signaling pathway(JAK1 TYK2 STAT3) ( IL-10 signaling(JAK1 TYK2 STAT3) ) inoh 6
STAT3 IL-23 signaling pathway(JAK2 TYK2 STAT3 STAT4) ( IL-23 signaling(JAK2 TYK2 STAT3 STAT4) ) inoh 6
STAT3 IL-6 signaling pathway(JAK1 JAK2 STAT3) ( IL-6 signaling(JAK1 JAK2 STAT3) ) inoh 6
STAT3 IL-7 netpath 28
STAT3 IL1 netpath 69
STAT3 IL12-mediated signaling events pid 62
STAT3 IL12 signaling mediated by STAT4 pid 33
STAT3 IL2-mediated signaling events pid 54
STAT3 IL2 netpath 81
STAT3 IL23-mediated signaling events pid 37
STAT3 IL27-mediated signaling events pid 26
STAT3 IL3 netpath 84
STAT3 IL4 netpath 75
STAT3 IL5 netpath 59
STAT3 IL6-mediated signaling events pid 48
STAT3 IL6 netpath 85
STAT3 IL9 netpath 24
STAT3 Inflammation mediated by chemokine and cytokine signaling pathway panther 189
STAT3 Interleukin-6 signaling reactome 11
STAT3 Interleukin signaling pathway panther 86
STAT3 JAK-STAT pathway and regulation pathway ( JAK-STAT pathway and regulation pathway Diagram ) inoh 97
STAT3 JAK/STAT signaling pathway panther 15
STAT3 KitReceptor netpath 104
STAT3 Leptin netpath 98
STAT3 LIF signaling pathway ( LIF signaling(JAK1 JAK2 STAT3) ) inoh 10
STAT3 Neurotrophic factor-mediated Trk receptor signaling pid 63
STAT3 Notch-mediated HES/HEY network pid 48
STAT3 Notch netpath 76
STAT3 PDGF signaling pathway panther 113
STAT3 PDGFR-beta signaling pathway pid 125
STAT3 Positive regulation of (Transcription of SOCS by STAT dimer) in JAK STAT pathway ( JAK-STAT pathway and regulation pathway Diagram ) inoh 178
STAT3 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation reactome 13
STAT3 Prolactin netpath 105
STAT3 RAC1 signaling pathway pid 54
STAT3 Ras Pathway panther 69
STAT3 Senescence-Associated Secretory Phenotype (SASP) reactome 108
STAT3 Signaling by cytosolic FGFR1 fusion mutants reactome 18
STAT3 Signaling by Leptin reactome 11
STAT3 Signaling by SCF-KIT reactome 37
STAT3 Signaling events mediated by HDAC Class I pid 89
STAT3 Signaling events mediated by PTP1B pid 53
STAT3 Signaling events mediated by Stem cell factor receptor (c-Kit) pid 53
STAT3 Signaling events mediated by TCPTP pid 40
STAT3 Transcriptional regulation of pluripotent stem cells reactome 28
STAT3 TSH netpath 82
STAT3 TSLP netpath 24
STAT3 Chemokine signaling pathway kegg 187
STAT3 Jak-STAT signaling pathway kegg 149
STAT3 Adipocytokine signaling pathway kegg 65
STAT3 Toxoplasmosis kegg 131
STAT3 Hepatitis C kegg 134
STAT3 Pathways in cancer kegg 321
STAT3 Pancreatic cancer kegg 70
STAT3 Acute myeloid leukemia kegg 53
STAT3 Hs_Interferon_type_I_signaling_pathways_WP585_85198 wikipathways 35
STAT3 Hs_Signaling_of_Hepatocyte_Growth_Factor_Receptor_WP313_79946 wikipathways 15
STAT3 Hs_Leptin_signaling_pathway_WP2034_89856 wikipathways 37
STAT3 Hs_Hepatitis_C_and_Hepatocellular_Carcinoma_WP3646_88640 wikipathways 36
STAT3 Hs_Interleukin-11_Signaling_Pathway_WP2332_79525 wikipathways 17
STAT3 Hs_PDGF_Pathway_WP2526_82681 wikipathways 12
STAT3 Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 wikipathways 153
STAT3 Hs_Dopaminergic_Neurogenesis_WP2855_87239 wikipathways 19
STAT3 Hs_Oncostatin_M_Signaling_Pathway_WP2374_73668 wikipathways 44
STAT3 Hs_Amino_Acid_metabolism_WP3925_90737 wikipathways 6
STAT3 Hs_Vitamin_B12_Metabolism_WP1533_85340 wikipathways 33
STAT3 Hs_ESC_Pluripotency_Pathways_WP3931_91005 wikipathways 13
STAT3 Hs_MicroRNAs_in_cardiomyocyte_hypertrophy_WP1544_89794 wikipathways 29
STAT3 Hs_Regulation_of_Microtubule_Cytoskeleton_WP2038_90889 wikipathways 38
STAT3 Hs_Kit_receptor_signaling_pathway_WP304_78799 wikipathways 46
STAT3 Hs_IL-5_Signaling_Pathway_WP127_78498 wikipathways 35
STAT3 Hs_IL-2_Signaling_Pathway_WP49_91243 wikipathways 33
STAT3 Hs_IL-6_signaling_pathway_WP364_89832 wikipathways 26
STAT3 Hs_RalA_downstream_regulated_genes_WP2290_79988 wikipathways 9
STAT3 Hs_IL-4_Signaling_Pathway_WP395_89828 wikipathways 41
STAT3 Hs_Brain-Derived_Neurotrophic_Factor_(BDNF)_signaling_pathway_WP2380_89803 wikipathways 80
STAT3 Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
STAT3 Hs_IL-3_Signaling_Pathway_WP286_78583 wikipathways 35
STAT3 Hs_Notch_Signaling_Pathway_WP61_78592 wikipathways 16
STAT3 Hs_IL-9_Signaling_Pathway_WP22_79264 wikipathways 11
MYC AP-1 transcription factor network pid 71
MYC Binding of TCF/LEF:CTNNB1 to target gene promoters reactome 7
MYC C-MYB transcription factor network pid 87
MYC C-MYC pathway pid 25
MYC CD40/CD40L signaling pid 36
MYC Ceramide signaling pathway pid 49
MYC Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants reactome 57
MYC Constitutive Signaling by NOTCH1 PEST Domain Mutants reactome 57
MYC Cyclin A:Cdk2-associated events at S phase entry reactome 15
MYC Cyclin E associated events during G1/S transition reactome 14
MYC E2F transcription factor network pid 77
MYC EGFR1 netpath 475
MYC Formation of the beta-catenin:TCF transactivating complex reactome 88
MYC FOXM1 transcription factor network pid 43
MYC IL2-mediated signaling events pid 54
MYC IL2 signaling events mediated by PI3K pid 38
MYC IL2 signaling events mediated by STAT5 pid 30
MYC IL6-mediated signaling events pid 48
MYC Interleukin signaling pathway panther 86
MYC LKB1 signaling events pid 43
MYC MAPK6/MAPK4 signaling reactome 90
MYC Notch signaling pathway pid 58
MYC NOTCH1 Intracellular Domain Regulates Transcription reactome 47
MYC Oxidative stress response panther 23
MYC p53 pathway feedback loops 2 panther 42
MYC p73 transcription factor network pid 80
MYC PDGF signaling pathway panther 113
MYC PDGFR-beta signaling pathway pid 125
MYC Presenilin action in Notch and Wnt signaling pid 46
MYC Prolactin netpath 105
MYC Regulation of nuclear beta catenin signaling and target gene transcription pid 80
MYC Regulation of nuclear SMAD2/3 signaling pid 82
MYC Regulation of Telomerase pid 70
MYC SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
MYC TGF_beta_Receptor netpath 220
MYC Validated nuclear estrogen receptor alpha network pid 65
MYC Validated targets of C-MYC transcriptional activation pid 80
MYC Validated targets of C-MYC transcriptional repression pid 63
MYC MAPK signaling pathway kegg 264
MYC ErbB signaling pathway kegg 83
MYC Cell cycle kegg 124
MYC Wnt signaling pathway kegg 135
MYC TGF-beta signaling pathway kegg 82
MYC Jak-STAT signaling pathway kegg 149
MYC Pathways in cancer kegg 321
MYC Colorectal cancer kegg 63
MYC Endometrial cancer kegg 52
MYC Thyroid cancer kegg 25
MYC Bladder cancer kegg 38
MYC Chronic myeloid leukemia kegg 69
MYC Acute myeloid leukemia kegg 53
MYC Small cell lung cancer kegg 83
MYC Hs_DNA_Damage_Response_(only_ATM_dependent)_WP710_79974 wikipathways 36
MYC Hs_TP53_Network_WP1742_71700 wikipathways 10
MYC Hs_Imatinib_and_Chronic_Myeloid_Leukemia_WP3640_89384 wikipathways 11
MYC Hs_miRNAs_involved_in_DNA_damage_response_WP1545_84697 wikipathways 30
MYC Hs_Association_Between_Physico-Chemical_Features_and_Toxicity_Associated_Pathways_WP3680_90113 wikipathways 31
MYC Hs_Gastric_Cancer_Network_2_WP2363_87523 wikipathways 28
MYC Hs_Hepatitis_C_and_Hepatocellular_Carcinoma_WP3646_88640 wikipathways 36
MYC Hs_Apoptosis_WP254_88977 wikipathways 31
MYC Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
MYC Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
MYC Hs_IL-5_Signaling_Pathway_WP127_78498 wikipathways 35
MYC Hs_Prolactin_Signaling_Pathway_WP2037_90015 wikipathways 52
MYC Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
MYC Hs_IL-7_Signaling_Pathway_WP205_89854 wikipathways 16
CTCF Activation of anterior HOX genes in hindbrain development during early embryogenesis reactome 120
CTCF TGF_beta_Receptor netpath 220

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer

Enhancer associated SNPs