Variant report
| Variant | nsv824656 |
|---|---|
| Chromosome Location | chr8:60651620-60652451 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs567949331 | chr8:60651634-60651635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572950627 | chr8:60651683-60651684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs192058205 | chr8:60651699-60651700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555284611 | chr8:60651702-60651703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs533748252 | chr8:60651807-60651808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs573567398 | chr8:60651925-60651926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs62506390 | chr8:60652056-60652057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200892753 | chr8:60652059-60652060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs71252829 | chr8:60652061-60652062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs34710208 | chr8:60652062-60652063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs562518137 | chr8:60652130-60652131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs138061204 | chr8:60652160-60652161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs35581703 | chr8:60652162-60652163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545159968 | chr8:60652175-60652176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs560681700 | chr8:60652208-60652209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs185366854 | chr8:60652218-60652219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs10087535 | chr8:60652220-60652221 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs16925209 | chr8:60652243-60652244 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs532015286 | chr8:60652264-60652265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs143897475 | chr8:60652304-60652305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs568861979 | chr8:60652325-60652326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs540558382 | chr8:60652345-60652346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs16925211 | chr8:60652352-60652353 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs76006096 | chr8:60652359-60652360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs559237436 | chr8:60652391-60652392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs533669268 | chr8:60652405-60652406 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs555118445 | chr8:60652441-60652442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:60651200-60655000 | Weak transcription | Primary B cells from cord blood | blood |
