Variant report
| Variant | esv10182 |
|---|---|
| Chromosome Location | chr20:22839322-22839797 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs542041757 | chr20:22839606-22839607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs75800320 | chr20:22839618-22839619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs150971249 | chr20:22839620-22839621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541342714 | chr20:22839633-22839634 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs560175934 | chr20:22839648-22839649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569578272 | chr20:22839663-22839664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs539706912 | chr20:22839706-22839707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373464762 | chr20:22839735-22839736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs60822844 | chr20:22839744-22839745 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs532980560 | chr20:22839756-22839757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs112853379 | chr20:22839773-22839774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs59348599 | chr20:22839776-22839777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs56085198 | chr20:22839791-22839792 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 19627613 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Alagille syndrome | 17576883 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 20164919 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Thrombophilia | 17576883 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Chordoma | 18071362 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:22839600-22839800 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr20:22839600-22839800 | Enhancers | Spleen | Spleen |
| 3 | chr20:22839600-22840000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 4 | chr20:22839600-22840200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
