About Enhancer
| Enhancer ID: | E_01798 |
| Species: | Homo sapiens |
| Position : | chr8:11446898-11447336   |
| Year: | 2022 |
| Title: | A risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | esophageal adenocarcinoma |
| PMID: | 35766871 |
| MONDO: | MONDO:0005028 |
| Tissue: | esophagus |
| Tissue Ontology ID: | UBERON:0001043 |
| Cell Source: | OE19 |
| CVCL ID: | CVCL_1622 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay; Enhancer activity assay; Disease-variant functional analysis |
| High Throughput Method: | RNA-seq, ChIP-seq; eQTL analysis; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout, RT-qPCR; Luciferase reporter assay; Allele-specific reporter assay; Reporter assay |
About Target Gene
| Target gene : | CTSB |
About TF
| TF name : | RUNX1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RUNX1 | AndrogenReceptor | netpath | 167 |
| RUNX1 | Organic cation transport | reactome | 9 |
| RUNX1 | RANKL | netpath | 84 |
| RUNX1 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| RUNX1 | TGF_beta_Receptor | netpath | 220 |
| RUNX1 | Validated transcriptional targets of deltaNp63 isoforms | pid | 47 |
| RUNX1 | Pathways in cancer | kegg | 321 |
| RUNX1 | Chronic myeloid leukemia | kegg | 69 |
| RUNX1 | Acute myeloid leukemia | kegg | 53 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
12 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01792 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01793 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01794 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01795 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01796 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01797 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01799 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01800 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01837 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01838 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01839 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
| E_01840 | chr8:11446898-11447336 | esophagus | malignant cell | esophageal adenocarcinoma |
Expression of Target Genes for the Enhancer