About Enhancer
| Enhancer ID: | E_01124 |
| 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:0004978 |
| Tissue: | Heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | HL-1 |
| CVCL ID: | CVCL_0303 |
| Cell Type: | atrial cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | Luciferase reporter assay, Tol2-mediated zebrafish transgenic reporter assay, ChIP-qPCR, EMSA, CRISPR-Cas9 genome editing, RT-qPCR, Western blot |
About Target Gene
| Target gene : | PITX2C |
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)
6 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01122 | chr4:111552482-111553989 | Blood | lymphoblastoid cell | -- |
| E_01123 | chr4:111552482-111553989 | Embryo | embryonic cell | -- |
| E_01125 | chr4:111552482-111553989 | Heart | cardiomyocyte | -- |
| E_01126 | chr4:111553098-111553222 | Cervix | cervical adenocarcinoma cell | cervical cancer |
| E_01127 | chr4:111553098-111553222 | Heart | atrial cardiomyocyte | atrial fibrillation |
| E_01128 | chr4:111553098-111553222 | Heart | cardiomyocyte | -- |
Expression of Target Genes for the Enhancer