Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03229 |
| Species: | Homo sapiens |
| Position : | chr9:21980404-21981404 |
| Year: | 2023 |
| Title: | Identification and functional validation of an enhancer variant in the 9p21.3 locus associated with glaucoma risk and elevated expression of p16(INK4a). |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 37345431 |
| Tissue: | kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | HEK293 |
| CVCL ID: | CVCL_0045 |
| Cell Type: | embryonic kidney cell |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay |
| Low Throughput Method: | Luciferase Reporter Assay; EMSA; ChIP-RT-qPCR; RT-RT-qPCR |
| Target gene : | CDKN2A |
| TF name : | YY1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| YY1 | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| YY1 | DNA Damage Recognition in GG-NER | reactome | 38 |
| YY1 | E2F transcription factor network | pid | 77 |
| YY1 | mTOR signaling pathway | pid | 66 |
| YY1 | Notch-mediated HES/HEY network | pid | 48 |
| YY1 | Notch | netpath | 76 |
| YY1 | Notch signaling pathway | pid | 58 |
| YY1 | p53 pathway | pid | 59 |
| YY1 | Signaling events mediated by HDAC Class I | pid | 89 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03178 | chr9:21980404-21981404 | uterine cervix | malignant cell | glaucoma |