About Enhancer
| Enhancer ID: | E_03253 |
| Species: | Homo sapiens |
| Position : | chr9:22050310-22054084   |
| 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: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | glaucoma |
| PMID: | 37345431 |
| MONDO: | MONDO:0005041 |
| Tissue: | eye |
| Tissue Ontology ID: | UBERON:0000970 |
| Cell Source: | human neural stem cells |
| Cell Type: | neural stem cell |
| Cell Ontology ID: | CL:0000047 |
| Experiment Type: | Allele-specific regulatory-element activity assay; TF binding assay; Repressor-function assay; Disease-variant functional analysis |
| High Throughput Method: | GWAS fine-mapping; ENCODE/epigenomic integration; GWAS |
| Low Throughput Method: | Dual-luciferase reporter; EMSA; YY1 ChIP-qPCR; allele-specific binding; RT-qPCR; senescence-related assays |
About Target Gene
| Target gene : | CDKN2A |
About TF
| TF name : | YY1 |
About Regulatory State
| Regulatory State : | Repressed |
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
Expression of Target Genes for the Enhancer