About Enhancer
| Enhancer ID: | E_00703 |
| Species: | Homo sapiens |
| Position : | chr9:21980404-21981404   |
| Year: | 2023 |
| Title: | Identification and functional validation of an enhancer variant in the 9p213 locus associated with glaucoma risk and elevated expression of p16INK4a |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 37345431 |
| MONDO: | |
| Tissue: | Brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | Neural Stem Cells |
| CVCL ID: | |
| Cell Type: | neural stem cell |
| Cell Ontology ID: | CL:0002672 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay |
| High Throughput Method: | |
| 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)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01222 | chr9:21978000-21983000 | Lung | fetal lung fibroblast | -- |
| E_00704 | chr9:21980404-21981404 | Cervix | cervical adenocarcinoma cell | cervical cancer |
| E_00705 | chr9:21980404-21981404 | Lung | fetal lung fibroblast | -- |
| E_00706 | chr9:21980404-21981404 | Breast | breast carcinoma cell | breast carcinoma |
| E_00707 | chr9:21980404-21981404 | Embryonic Kidney | embryonic kidney cell | -- |
Expression of Target Genes for the Enhancer