About Enhancer
| Enhancer ID: | E_02301 |
| Species: | Homo sapiens |
| Position : | chr6:12826550-12826620   |
| Year: | 2015 |
| Title: | Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | myocardial infarction |
| PMID: | 25838425 |
| MONDO: | MONDO:0005068 |
| Tissue: | coronary artery |
| Tissue Ontology ID: | UBERON:0001621 |
| Cell Source: | hESC-derived endothelial cells |
| Cell Type: | endothelial cell |
| Cell Ontology ID: | CL:0000115 |
| Experiment Type: | Regulatory variant functional assay; TF binding assay; Enhancer activity assay; Functional perturbation assay |
| High Throughput Method: | Genetic fine-mapping; eQTL analysis; epigenomic annotation |
| Low Throughput Method: | Reporter assay; MEF2 DNA-binding assay; CRISPR-Cas9 deletion of MEF2-binding site; RT-qPCR |
About Target Gene
| Target gene : | PHACTR1 |
About TF
| TF name : | MEF2A |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| MEF2A | CDO in myogenesis | reactome | 29 |
| MEF2A | ERK/MAPK targets | reactome | 17 |
| MEF2A | Signaling mediated by p38-alpha and p38-beta | pid | 35 |
| MEF2A | TGF_beta_Receptor | netpath | 220 |
| MEF2A | Hs_p38_MAPK_Signaling_Pathway_WP400_72084 | wikipathways | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02345 | chr6:12826550-12826620 | aorta | endothelial cell | coronary artery disease |
Expression of Target Genes for the Enhancer