About Enhancer
| Enhancer ID: | E_02241 |
| Species: | Homo sapiens |
| Position : | chr4:111552482-111553989   |
| 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: | embryo |
| Tissue Ontology ID: | UBERON:0000922 |
| Cell Source: | Danio rerio embryos |
| Experiment Type: | In vivo enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation |
| Low Throughput Method: | Tol2-mediated transgenic reporter assay; eGFP RT-qPCR; CRISPR-Cas9 endogenous deletion/editing; In vivo phenotyping |
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_02192 | chr4:111553081-111553310 | heart | cardiac muscle cell | atrial fibrillation |
| E_02239 | chr4:111553081-111553310 | uterine cervix | NA | atrial fibrillation |
| E_02263 | chr4:111553081-111553310 | heart | cardiac muscle cell | atrial fibrillation |
| E_02182 | chr4:111553098-111553222 | heart | cardiac muscle cell | atrial fibrillation |
Expression of Target Genes for the Enhancer