About Enhancer
| Enhancer ID: | E_00273 |
| 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: | renal cell carcinoma model (paper-derived RCC cells) |
| Cell Type: | renal cell carcinoma cell |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay, Chromatin interaction assay; Endogenous enhancer perturbation; TF binding assay; Disease-variant functional analysis |
| High Throughput Method: | ChIP-seq, Hi-C; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout; CRISPR-Cas9 endogenous deletion/editing; ChIP |
About Target Gene
| Target gene : | MYC |
About TF
| TF name : | HIF1A |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HIF1A | Angiogenesis | panther | 141 |
| HIF1A | AP-1 transcription factor network | pid | 71 |
| HIF1A | BMAL1:CLOCK,NPAS2 activates circadian gene expression | reactome | 42 |
| HIF1A | Circadian Clock | reactome | 49 |
| HIF1A | HIF-1-alpha transcription factor network | pid | 67 |
| HIF1A | Hypoxia response via HIF activation | panther | 16 |
| HIF1A | Hypoxic and oxygen homeostasis regulation of HIF-1-alpha | pid | 19 |
| HIF1A | Notch-mediated HES/HEY network | pid | 48 |
| HIF1A | NOTCH1 Intracellular Domain Regulates Transcription | reactome | 47 |
| HIF1A | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | reactome | 18 |
| HIF1A | Parkinson disease | panther | 85 |
| HIF1A | PTK6 Expression | reactome | 5 |
| HIF1A | PTK6 promotes HIF1A stabilization | reactome | 6 |
| HIF1A | Regulation of gene expression by Hypoxia-inducible Factor | reactome | 10 |
| HIF1A | VEGF signaling pathway | panther | 54 |
| HIF1A | VEGFR1 specific signals | pid | 29 |
| HIF1A | mTOR signaling pathway | kegg | 50 |
| HIF1A | Pathways in cancer | kegg | 321 |
| HIF1A | Renal cell carcinoma | kegg | 65 |
| HIF1A | Hs_Hepatitis_C_and_Hepatocellular_Carcinoma_WP3646_88640 | wikipathways | 36 |
| HIF1A | Hs_Focal_Adhesion-PI3K-Akt-mTOR-signaling_pathway_WP3932_91101 | wikipathways | 8 |
| HIF1A | Hs_AGE-RAGE_pathway_WP2324_89798 | wikipathways | 27 |
| HIF1A | Hs_Notch_Signaling_Pathway_WP61_78592 | wikipathways | 16 |
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_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_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