About Enhancer
| Enhancer ID: | E_02263 |
| Species: | Homo sapiens |
| Position : | chr4:111553081-111553310   |
| Year: | 2016 |
| Title: | A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | atrial fibrillation |
| PMID: | 27866707 |
| MONDO: | MONDO:0004981 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | HL-1 |
| CVCL ID: | CVCL_0303 |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay |
| Low Throughput Method: | Allele-specific luciferase reporter assay; CRISPR-Cas9 |
About Target Gene
| Target gene : | PITX2 |
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)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02241 | chr4:111552482-111553989 | embryo | NA | atrial fibrillation |
| E_02192 | chr4:111553081-111553310 | heart | cardiac muscle cell | atrial fibrillation |
| E_02239 | chr4:111553081-111553310 | uterine cervix | NA | atrial fibrillation |
| E_02182 | chr4:111553098-111553222 | heart | cardiac muscle cell | atrial fibrillation |
Expression of Target Genes for the Enhancer