Variant report
| Variant | esv3383635 |
|---|---|
| Chromosome Location | chr20:41465833-41466174 |
| 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 | chr20:41464381..41466534-chr20:41468260..41469973,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs62203968 | chr20:41465852-41465853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs148653706 | chr20:41465869-41465870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184648193 | chr20:41465877-41465878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554263054 | chr20:41465897-41465898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6103061 | chr20:41465908-41465909 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs543132250 | chr20:41465939-41465940 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs117903158 | chr20:41465974-41465975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs189410249 | chr20:41466000-41466001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181972119 | chr20:41466027-41466028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs559641154 | chr20:41466034-41466035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs527614952 | chr20:41466050-41466051 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs369552886 | chr20:41466056-41466057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs370113826 | chr20:41466065-41466066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs151162259 | chr20:41466080-41466081 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs542061988 | chr20:41466102-41466103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140123440 | chr20:41466136-41466137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368567422 | chr20:41466141-41466142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs169630 | chr20:41466159-41466160 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:78)
| Disease | PMID | Source |
|---|---|---|
| Gastric cancer | 17908304 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Autism | 22495311 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Melanoma | 21693616 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| colon cancer | 17210682 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Myeloproliferative neoplasm | 19047681 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Melanoma | 18172304 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Ovarian cancer | 19193619 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 18628472 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 20585902 | CNVD |
| Ductal carcinoma | 18381933 | CNVD |
| Cancer | 21129771 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:41464400-41466400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 2 | chr20:41464800-41466000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr20:41466000-41466200 | Enhancers | Gastric | stomach |
