About Enhancer

Enhancer ID: E_01_0022
Species: human
Position : chr15:67061032-67063032
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Papillary thyroid carcinoma
Pubmed ID:  29300379
Enhancer experiment: ChIP,siRNA Knockdown,Luciferase reporter assay,Transfection,qPCR
Enhancer experiment description: These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3.

About Target gene

Target gene : SPRY4
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3.;The sprouty RTK signaling antagonist 4 (SPRY4)gene was found to be the second-most dysregulated candidate gene

About TF

TF name : SMAD3
TF experiment: ChIP,siRNA Knockdown,Luciferase reporter assay,Transfection,qPCR
TF experiment description: These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3.;The sprouty RTK signaling antagonist 4 (SPRY4)gene was found to be the second-most dysregulated candidate gene

About Function

Enhancer function : These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3.

About SNP

SNP ID: rs17293632,rs4562997

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
SMAD3 Alpha6Beta4Integrin netpath 74
SMAD3 AndrogenReceptor netpath 167
SMAD3 BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 34
SMAD3 Downregulation of SMAD2/3:SMAD4 transcriptional activity reactome 23
SMAD3 Downregulation of TGF-beta receptor signaling reactome 26
SMAD3 EGFR1 netpath 475
SMAD3 Gene expression of smad6/7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 8
SMAD3 Gene expression of smad7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 7
SMAD3 HIF-1-alpha transcription factor network pid 67
SMAD3 ID netpath 38
SMAD3 Negative regulation of (transcription by R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 21
SMAD3 Notch netpath 76
SMAD3 Regulation of cytoplasmic and nuclear SMAD2/3 signaling pid 20
SMAD3 Regulation of nuclear SMAD2/3 signaling pid 82
SMAD3 Regulation of Telomerase pid 70
SMAD3 Signaling by Activin reactome 11
SMAD3 Signaling by NODAL reactome 19
SMAD3 SMAD2/3 MH2 Domain Mutants in Cancer reactome 7
SMAD3 SMAD2/3 Phosphorylation Motif Mutants in Cancer reactome 6
SMAD3 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
SMAD3 TGF-beta receptor signaling activates SMADs reactome 12
SMAD3 TGF-beta receptor signaling pid 53
SMAD3 TGF-beta signaling pathway panther 88
SMAD3 TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 51
SMAD3 TGF_beta_Receptor netpath 220
SMAD3 TGFBR1 KD Mutants in Cancer reactome 7
SMAD3 TNFalpha netpath 274
SMAD3 Validated targets of C-MYC transcriptional activation pid 80
SMAD3 Validated targets of C-MYC transcriptional repression pid 63
SMAD3 Cell cycle kegg 124
SMAD3 Endocytosis kegg 201
SMAD3 Wnt signaling pathway kegg 135
SMAD3 TGF-beta signaling pathway kegg 82
SMAD3 Adherens junction kegg 70
SMAD3 Chagas disease kegg 103
SMAD3 Pathways in cancer kegg 321
SMAD3 Colorectal cancer kegg 63
SMAD3 Pancreatic cancer kegg 70
SMAD3 Hs_Cell_Cycle_WP179_89516 wikipathways 33
SMAD3 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
SMAD3 Hs_Integrated_Cancer_Pathway_WP1971_82939 wikipathways 33
SMAD3 Hs_Mesodermal_Commitment_Pathway_WP2857_87780 wikipathways 47
SMAD3 Hs_TGF-beta_Signaling_Pathway_WP366_90028 wikipathways 67
SMAD3 Hs_Androgen_receptor_signaling_pathway_WP138_79958 wikipathways 27

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