About Enhancer
| Enhancer ID: | E_00009 |
| 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: | renal cell carcinoma |
| PMID: | 27774982 |
| MONDO: | MONDO:0005086 |
| Tissue: | kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | 786-O |
| CVCL ID: | CVCL_1051 |
| Cell Type: | renal cell carcinoma cell |
| Experiment Type: | Enhancer activity assay; TF binding assay; Functional perturbation assay; Chromatin interaction assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | HIF ChIP-seq; H3K27ac/H3K4me1 ChIP-seq; DNase-seq; Capture-C; GWAS |
| Low Throughput Method: | CRISPR/Cas9 HRE disruption; HIF-2alpha/HIF-1beta ChIP-qPCR; RT-qPCR; FAIRE-qPCR; luciferase reporter assay; CRISPR-Cas9 endogenous deletion/editing; ChIP |
About Target Gene
| Target gene : | PVT1 |
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_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_00050 | chr8:128889122-128889450 | kidney | clear cell renal cell carcinoma cell of renal tubular origin | 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