Variant report
| Variant | esv3406386 |
|---|---|
| Chromosome Location | chr20:22061777-22064325 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr20:21773919..21776758-chr20:22060246..22062031,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs554437187 | chr20:22061816-22061817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs145106978 | chr20:22061820-22061821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191307129 | chr20:22061821-22061822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556675816 | chr20:22061829-22061830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs368458152 | chr20:22061839-22061840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138983923 | chr20:22061889-22061890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559631051 | chr20:22061997-22061998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs572814229 | chr20:22062002-22062003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140694973 | chr20:22062016-22062017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs111335835 | chr20:22062045-22062046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576078372 | chr20:22062049-22062050 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs8183131 | chr20:22062068-22062069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs563528384 | chr20:22062088-22062089 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs530871910 | chr20:22062119-22062120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs113739040 | chr20:22062129-22062130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370419752 | chr20:22062130-22062131 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112110795 | chr20:22062136-22062137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs138364889 | chr20:22062138-22062139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs149248558 | chr20:22062173-22062174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:46)
| 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 |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:22061200-22062200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
