About Enhancer
| Enhancer ID: | E_02182 |
| Species: | Homo sapiens |
| Position : | chr4:111553098-111553222   |
| 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: | hESC-derived cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Disease-associated enhancer assay; TF binding assay; endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | ENCODE and Roadmap epigenomic integration |
| Low Throughput Method: | Dual-luciferase reporter assay; zebrafish enhancer reporter assay; CRISPR-Cas9 enhancer deletion; CRISPR allele editing; TFAP2A binding assay; qRT-PCR; CRISPR-Cas9 endogenous deletion/editing; In vivo phenotyping |
About Target Gene
| Target gene : | PITX2 |
About TF
| TF name : | TFAP2A |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| TFAP2A | Caspase Cascade in Apoptosis | pid | 57 |
| TFAP2A | Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 | wikipathways | 41 |
| TFAP2A | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| TFAP2A | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 |
| TFAP2A | Hs_Hypothetical_Craniofacial_Development_Pathway_WP3655_88473 | wikipathways | 5 |
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_02263 | chr4:111553081-111553310 | heart | cardiac muscle cell | atrial fibrillation |
Expression of Target Genes for the Enhancer