About Enhancer
| Enhancer ID: | E_01299 |
| Species: | Homo sapiens |
| Position : | chr6:12903457-12904457   |
| Year: | 2017 |
| Title: | A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | pleiotropic vascular-disease susceptibility locus |
| PMID: | 28753427 |
| Tissue: | red nucleus |
| Tissue Ontology ID: | UBERON:0001947 |
| Cell Source: | HUVEC and CRISPR-edited endothelial models |
| Cell Type: | endothelial cell |
| Cell Ontology ID: | CL:0000115 |
| Experiment Type: | Allele-specific distal regulatory-variant perturbation and target analysis |
| High Throughput Method: | vascular epigenomic/transcriptomic integration |
| Low Throughput Method: | CRISPR-Cas9 allelic editing; 4C; RT-qPCR; EDN1 protein assay; endothelial functional assays |
About Target Gene
| Target gene : | EDN1 |
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)
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_02346 | chr6:12902957-12904957 | coronary artery | endothelial cell | coronary artery disease |
Expression of Target Genes for the Enhancer