About Enhancer

Enhancer ID: E_01_0468
Species: human
Position : chr12:102393392-102395392
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Primary biliary cholangitis (pbc)
Pubmed ID:  29773854
Enhancer experiment: ChIP-seq
Enhancer experiment description: Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.

About Target gene

Target gene : UMAD1,TNFSF15
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.;Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.;Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.

About TF

TF name : IGF1
TF experiment: ChIP-seq
TF experiment description: Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.;Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.;Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.

About Function

Enhancer function : Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 Our analysis demonstrates the utility of haplotype association analyses in discovering and characterizing PBC susceptibility loci.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
IGF1 Ceramide signaling pathway pid 49
IGF1 Heterotrimeric GPCR signaling pathway (through G alpha i and pertussis toxin) ( GPCR signaling (pertussis toxin) ) inoh 228
IGF1 Heterotrimeric GPCR signaling pathway (through G alpha q, PLC beta and ERK cascade) ( GPCR signaling (G alpha q) ) inoh 239
IGF1 Heterotrimeric GPCR signaling pathway (through G alpha s ACs Epac BRaf and ERKcascade) ( GPCR signaling (G alpha s, Epac and ERK) ) inoh 237
IGF1 Heterotrimeric GPCR signaling pathway (through_G alpha s_ACs_PKA_BRaf_and_ERKcascade)(canonical) ( GPCR signaling (G alpha s, PKA and ERK) ) inoh 227
IGF1 Heterotrimeric GTP-binding protein coupled receptor signaling pathway (through G alpha i, adenylate cyclase and cAMP) ( GPCR signaling (G alpha i) ) inoh 228
IGF1 Heterotrimeric GTP-binding protein coupled receptor signaling pathway (through_G_alpha_s,_cholera_toxin,_adenylate_cyclase_and_cAMP) ( GPCR signaling (cholera toxin) ) inoh 227
IGF1 IGF1 pathway pid 30
IGF1 IGF1 signaling pathway ( IGF1 signaling pathway ) inoh 27
IGF1 Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade panther 29
IGF1 Insulin/IGF pathway-protein kinase B signaling cascade panther 22
IGF1 Integrins in angiogenesis pid 66
IGF1 IRS-related events triggered by IGF1R reactome 6
IGF1 Plasma membrane estrogen receptor signaling pid 42
IGF1 Platelet degranulation reactome 107
IGF1 Regulation of IGF Activity by IGFBP reactome 21
IGF1 SHC-related events triggered by IGF1R reactome 9
IGF1 SHP2 signaling pid 60
IGF1 Stabilization and expansion of the E-cadherin adherens junction pid 43
IGF1 Synthesis, secretion, and deacylation of Ghrelin reactome 17
IGF1 Oocyte meiosis kegg 110
IGF1 p53 signaling pathway kegg 66
IGF1 Focal adhesion kegg 197
IGF1 Long-term depression kegg 67
IGF1 Progesterone-mediated oocyte maturation kegg 84
IGF1 Aldosterone-regulated sodium reabsorption kegg 42
IGF1 Pathways in cancer kegg 321
IGF1 Glioma kegg 65
IGF1 Prostate cancer kegg 85
IGF1 Melanoma kegg 69
IGF1 Hypertrophic cardiomyopathy (HCM) kegg 78
IGF1 Dilated cardiomyopathy kegg 85
IGF1 Hs_Factors_and_pathways_affecting_insulin-like_growth_factor_(IGF1)-Akt_signaling_WP3850_88165 wikipathways 19
IGF1 Hs_Senescence_and_Autophagy_in_Cancer_WP615_81193 wikipathways 62
IGF1 Hs_Lung_fibrosis_WP3624_91475 wikipathways 23

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