About Enhancer
| Enhancer ID: | E_00856 |
| Species: | Homo sapiens |
| Position : | chr8:27456153-27456353   |
| 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: | Disease |
| Disease Name: | exfoliation syndrome |
| PMID: | 28973302 |
| MONDO: | MONDO:0008327 |
| Tissue: | lens of eye |
| Tissue Ontology ID: | UBERON:0000965 |
| Cell Source: | HEK293 |
| CVCL ID: | CVCL_0045 |
| Cell Type: | HEK293 transformed human cell; lens-capsule tissue sample |
| Experiment Type: | causal risk-enhancer validation with allele-specific TF mechanism |
| High Throughput Method: | ENCODE H3K27ac/DNase regulatory annotation; GTEx eQTL analysis |
| Low Throughput Method: | luciferase reporter; CRISPR-Cas9 115-bp deletion; EMSA; HSF1 supershift; HSF1 ChIP-qPCR; HSF1 siRNA; RT-qPCR; western blot |
About Target Gene
| Target gene : | CLU |
About TF
| TF name : | HSF1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| 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 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
14 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00879 | chr8:27456150-27456350 | kidney | embryonic kidney cell | NA |
| E_00880 | chr8:27456150-27456350 | kidney | embryonic kidney cell | NA |
| E_00881 | chr8:27456150-27456350 | kidney | embryonic kidney cell | NA |
| E_00854 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00855 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00857 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | exfoliation syndrome |
| E_00884 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00885 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00886 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | exfoliation syndrome |
| E_00887 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | exfoliation syndrome |
| E_00888 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00889 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | Alzheimer disease |
| E_00890 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | exfoliation syndrome |
| E_00891 | chr8:27456153-27456353 | lens of eye | HEK293 transformed human cell; lens-capsule tissue sample | exfoliation syndrome |
Expression of Target Genes for the Enhancer