About Enhancer
| Enhancer ID: | E_04502 |
| Species: | Homo sapiens |
| Position : | chr2:46578867-46579857   |
| Year: | 2022 |
| Title: | A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 36417539 |
| Tissue: | kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | HEK293T |
| CVCL ID: | CVCL_0063 |
| Cell Type: | HEK293T cell |
| Experiment Type: | Enhancer activity assay; Allele-specific functional assay |
| Low Throughput Method: | Luciferase Reporter Assay; Site-directed mutagenesis; Sanger sequencing |
About Target Gene
| Target gene : | EPAS1 |
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)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04452 | chr2:46578867-46579857 | thoracic aorta | endothelial cell of thoracic aorta | NA |
Expression of Target Genes for the Enhancer