Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_00460 |
| Species: | Homo sapiens |
| Position : | chr8:27456150-27456350 |
| Year: | 2017 |
| Title: | Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 28973302 |
| MONDO: | |
| Tissue: | Embryonic Kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | HEK293 |
| CVCL ID: | CVCL_0063 |
| Cell Type: | embryonic kidney cell |
| Cell Ontology ID: | CL:0002139 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay |
| High Throughput Method: | |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout, ChIP-RT-qPCR, EMSA, RT-RT-qPCR, Western blot |
| Target gene : | PTK2B |
| TF name : | HSF1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HSF1 | Attenuation phase | reactome | 28 |
| HSF1 | HSF1-dependent transactivation | reactome | 34 |
| HSF1 | HSF1 activation | reactome | 31 |
| HSF1 | p73 transcription factor network | pid | 80 |
| HSF1 | Regulation of HSF1-mediated heat shock response | reactome | 82 |
| HSF1 | Hs_DNA_IR-Double_Strand_Breaks_(DSBs)_and_cellular_response_via_ATM_WP3959_91367 | wikipathways | 50 |