Variant report
| Variant | nsv510606 |
|---|---|
| Chromosome Location | chr12:86545449-86555302 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
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Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539889793 | chr12:86546601-86546602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562223421 | chr12:86546615-86546616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183954577 | chr12:86546653-86546654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs370927022 | chr12:86546678-86546679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs839191 | chr12:86546701-86546702 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs61932274 | chr12:86546719-86546720 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs149983802 | chr12:86546724-86546725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs145151458 | chr12:86546735-86546736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs75156599 | chr12:86546744-86546745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs61932275 | chr12:86546775-86546776 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs149171198 | chr12:86546809-86546810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539989288 | chr12:86546840-86546841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558139811 | chr12:86546873-86546874 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs527410082 | chr12:86546953-86546954 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573201411 | chr12:86546958-86546959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540124784 | chr12:86546981-86546982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555656800 | chr12:86546984-86546985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573882469 | chr12:86546991-86546992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs567554553 | chr12:86548406-86548407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs537707627 | chr12:86548460-86548461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs556052523 | chr12:86548468-86548469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs577387666 | chr12:86548482-86548483 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs78621035 | chr12:86548509-86548510 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs553717784 | chr12:86548515-86548516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs572095490 | chr12:86548560-86548561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:86546600-86547000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr12:86548400-86548600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
