About Enhancer
| Enhancer ID: | E_01799 |
| 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 : | RUNX2 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RUNX2 | AndrogenReceptor | netpath | 167 |
| RUNX2 | FGF signaling pathway | pid | 55 |
| RUNX2 | Leptin | netpath | 98 |
| RUNX2 | Notch-mediated HES/HEY network | pid | 48 |
| RUNX2 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| RUNX2 | Regulation of retinoblastoma protein | pid | 67 |
| RUNX2 | TGF_beta_Receptor | netpath | 220 |
| RUNX2 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| RUNX2 | Hs_MAPK_Signaling_Pathway_WP382_79951 | wikipathways | 58 |
| RUNX2 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| RUNX2 | Hs_Role_of_Osx_and_miRNAs_in_tooth_development_WP3971_91525 | wikipathways | 9 |
| RUNX2 | Hs_Bone_Morphogenic_Protein_(BMP)_Signalling_and_Regulation_WP1425_86082 | wikipathways | 6 |
| RUNX2 | Hs_Focal_Adhesion-PI3K-Akt-mTOR-signaling_pathway_WP3932_91101 | wikipathways | 8 |
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_01798 | 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