About Enhancer
| Enhancer ID: | E_02346 |
| Species: | Homo sapiens |
| Position : | chr6:12902957-12904957   |
| 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: | coronary artery disease |
| PMID: | 25838425 |
| Tissue: | coronary artery |
| Tissue Ontology ID: | UBERON:0001621 |
| Cell Source: | HUVEC and hESC-derived endothelial cells |
| Cell Type: | endothelial cell |
| Cell Ontology ID: | CL:0000115 |
| Experiment Type: | TF binding assay; Allele-specific cis-regulatory assay; Functional genome-editing assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | Genetic fine-mapping; coronary-artery eQTL analysis; Roadmap Epigenomics integration; eQTL analysis; GWAS |
| Low Throughput Method: | EMSA/supershift; CRISPR/Cas9 deletion of the MEF2-binding site; RT-qPCR; CRISPR-Cas9 endogenous deletion/editing |
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)
3 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01181 | chr6:12902957-12904957 | aorta | endothelial cell | vascular disease susceptibility |
| E_01287 | chr6:12902957-12904957 | blood vessel | endothelial cell | vascular disease susceptibility |
| E_01299 | chr6:12903457-12904457 | red nucleus | endothelial cell | pleiotropic vascular-disease susceptibility locus |
Expression of Target Genes for the Enhancer