Variant report
| Variant | nsv585197 |
|---|---|
| Chromosome Location | chr20:1239505-1240993 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs805571 | chr20:1239505-1239506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200524978 | chr20:1239521-1239522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs77688057 | chr20:1239533-1239534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs78436881 | chr20:1239542-1239543 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs201729502 | chr20:1239568-1239569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs6134383 | chr20:1239569-1239570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6134384 | chr20:1239615-1239616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs372247575 | chr20:1239659-1239660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs199834996 | chr20:1239677-1239678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546130991 | chr20:1239702-1239703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs369390971 | chr20:1239731-1239732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs372834790 | chr20:1239736-1239737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs200549161 | chr20:1239752-1239753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs375940617 | chr20:1239758-1239759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs6078369 | chr20:1239761-1239762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs376182112 | chr20:1239785-1239786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs6040949 | chr20:1239799-1239800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autism | 18414403 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 16397240 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| 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 |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 17363583 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:1239000-1239800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
