Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00050
Species: Homo sapiens
Position : chr8:128889122-128889450
Year: 2016
Title: Genetic variation at the 8q24.21 renal cancer susceptibility locus affects HIF binding to a MYC enhancer.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: Clear cell renal cell carcinoma
PMID:  27774982
MONDO: MONDO:0005005
Tissue: kidney
Tissue Ontology ID: UBERON:0002113
Cell Source: 786-O
CVCL ID: CVCL_1051
Cell Type: clear cell renal cell carcinoma cell of renal tubular origin
Experiment Type: Causal renal-cancer risk enhancer; allele-specific HIF binding; enhancer-promoter interaction; endogenous HRE editing
High Throughput Method: HIF ChIP-seq; H3K27ac ChIP-seq; RNA polymerase II ChIP-seq; Capture-C; TCGA RNA-seq/eQTL
Low Throughput Method: Luciferase reporter; allele-specific ChIP-qPCR; FAIRE-qPCR; CRISPR-Cas9 HRE editing; RT-qPCR
About Target Gene
Target gene : MYC
About TF
TF name : EPAS1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
EPAS1 HIF-2-alpha transcription factor network pid 34
EPAS1 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha reactome 18
EPAS1 PTK6 Expression reactome 5
EPAS1 Regulation of gene expression by Hypoxia-inducible Factor reactome 10
EPAS1 Transcriptional regulation of pluripotent stem cells reactome 28
EPAS1 Pathways in cancer kegg 321
EPAS1 Renal cell carcinoma kegg 65
Enhancer Associated Network
Overlapping Enhancers (hg19) 18 found
Enhancer ID Position Tissue Cell Disease
E_02292 chr8:128750000-129000000 breast malignant cell prostate cancer
E_00009 chr8:128889122-128889450 kidney renal cell carcinoma cell renal cell carcinoma
E_00014 chr8:128889122-128889450 kidney clear cell renal cell carcinoma cell of renal tubular origin Clear cell renal cell carcinoma
E_00015 chr8:128889122-128889450 kidney clear cell renal cell carcinoma cell of renal tubular origin Clear cell renal cell carcinoma
E_00016 chr8:128889122-128889450 kidney clear cell renal cell carcinoma cell / malignant renal epithelial cell clear cell renal cell carcinoma
E_00047 chr8:128889122-128889450 kidney clear cell renal cell carcinoma cell / malignant renal epithelial cell clear cell renal cell carcinoma
E_00051 chr8:128889122-128889450 kidney clear cell renal cell carcinoma cell of renal tubular origin Clear cell renal cell carcinoma
E_00273 chr8:128889122-128889450 kidney renal cell carcinoma cell renal cell carcinoma
E_00374 chr8:128889122-128889450 kidney renal cell carcinoma cell renal cell carcinoma
E_00401 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00402 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00403 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00404 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00405 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00406 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00407 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00408 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
E_00409 chr8:128889122-128889450 kidney renal epithelial cell clear cell renal carcinoma
Expression of Target Genes for the Enhancer