Variant report
| Variant | esv3491047 |
|---|---|
| Chromosome Location | chr2:36008890-36009146 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs559643188 | chr2:36008899-36008900 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs183287616 | chr2:36008900-36008901 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7579383 | chr2:36008928-36008929 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs563344129 | chr2:36008960-36008961 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs141781282 | chr2:36008978-36008979 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs530883556 | chr2:36008990-36008991 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7591804 | chr2:36009012-36009013 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376501125 | chr2:36009019-36009020 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs561307877 | chr2:36009051-36009052 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs70943139 | chr2:36009053-36009054 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs375263781 | chr2:36009054-36009055 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs149850332 | chr2:36009059-36009060 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs546969586 | chr2:36009060-36009061 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs571870267 | chr2:36009067-36009068 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9308982 | chr2:36009121-36009122 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs9308983 | chr2:36009125-36009126 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs145878975 | chr2:36009129-36009130 | Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs9308984 | chr2:36009139-36009140 | Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:36008600-36009000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr2:36008600-36009400 | Enhancers | A549 | lung |
| 3 | chr2:36009000-36009200 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
