About Enhancer
| Enhancer ID: | E_03630 |
| Species: | Homo sapiens |
| Position : | chr12:54359946-54360613   |
| 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: | KYSE-30 |
| CVCL ID: | CVCL_1351 |
| Cell Type: | epithelial cell |
| Cell Ontology ID: | CL:0000066 |
| Experiment Type: | Enhancer activity assay; Functional variant assay; Genetic association study; Disease-variant functional analysis; In vivo functional validation |
| Low Throughput Method: | Dual-Luciferase Reporter Assay; Enhancer deletion mapping; rs920778 allele comparison; Genotyping; HOTAIR RT-qPCR; Allele-specific reporter assay; In vivo phenotyping; Reporter assay |
About Target Gene
| Target gene : | HOTAIR |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03675 | chr12:54359232-54361232 | esophagus | esophageal epithelial cell | esophageal squamous cell carcinoma |
Expression of Target Genes for the Enhancer