Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03675 |
| Species: | Homo sapiens |
| Position : | chr12:54359232-54361232 |
| Year: | 2014 |
| Title: | The identification of an ESCC susceptibility SNP rs920778 that regulates the expression of lncRNA HOTAIR via a novel intronic enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | esophageal squamous cell carcinoma |
| PMID: | 24788237 |
| MONDO: | MONDO:0005580 |
| Tissue: | esophagus |
| Tissue Ontology ID: | UBERON:0001043 |
| Cell Source: | ESCC cell lines and human esophageal tissue |
| Cell Type: | esophageal epithelial cell |
| Experiment Type: | Disease-associated allele-specific enhancer validation |
| High Throughput Method: | Case-control genotyping / genetic association |
| Low Throughput Method: | Luciferase reporter; allele-specific expression; RT-qPCR; Reporter assay |
| Target gene : | HOTAIR |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03630 | chr12:54359946-54360613 | esophagus | epithelial cell | esophageal squamous cell carcinoma |