About Enhancer
| Enhancer ID: | E_03178 |
| 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: | Disease |
| Disease Name: | glaucoma |
| PMID: | 37345431 |
| MONDO: | MONDO:0005041 |
| Tissue: | uterine cervix |
| Tissue Ontology ID: | UBERON:0000002 |
| Cell Source: | HeLa |
| CVCL ID: | CVCL_0030 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay; Disease-variant functional analysis |
| High Throughput Method: | GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, EMSA, ChIP-RT-qPCR, RT-RT-qPCR |
About Target Gene
| Target gene : | CDKN2A |
About TF
| TF name : | YY1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| 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 Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03229 | chr9:21980404-21981404 | kidney | embryonic kidney cell | NA |
Expression of Target Genes for the Enhancer