About Enhancer
| Enhancer ID: | E_01181 |
| Species: | Homo sapiens |
| Position : | chr6:12902957-12904957   |
| 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: | vascular disease susceptibility |
| PMID: | 28753427 |
| Tissue: | aorta |
| Tissue Ontology ID: | UBERON:0000947 |
| Cell Source: | pluripotent stem cell-derived endothelial cells |
| Cell Type: | endothelial cell |
| Cell Ontology ID: | CL:0000115 |
| Experiment Type: | Disease-associated enhancer variant functional perturbation; Chromatin interaction assay |
| High Throughput Method: | Genetic fine-mapping; H3K27ac ChIP-seq; epigenomic profiling; 4C-seq |
| Low Throughput Method: | CRISPR/Cas9 allele editing and regulatory-element deletion; RT-qPCR; endothelin-1 quantification |
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_01287 | chr6:12902957-12904957 | blood vessel | endothelial cell | vascular disease susceptibility |
| E_02346 | chr6:12902957-12904957 | coronary artery | endothelial cell | coronary artery disease |
| E_01299 | chr6:12903457-12904457 | red nucleus | endothelial cell | pleiotropic vascular-disease susceptibility locus |
Expression of Target Genes for the Enhancer