Variant report
| Variant | esv3326917 |
|---|---|
| Chromosome Location | chr12:86683013-86683483 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs117199928 | chr12:86683013-86683014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561435457 | chr12:86683041-86683042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs532614123 | chr12:86683043-86683044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs201805091 | chr12:86683056-86683057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2406119 | chr12:86683072-86683073 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs536631826 | chr12:86683088-86683089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs550010851 | chr12:86683127-86683128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs571382400 | chr12:86683147-86683148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189178390 | chr12:86683171-86683172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs547588910 | chr12:86683173-86683174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs78108545 | chr12:86683185-86683186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548614833 | chr12:86683205-86683206 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs554807820 | chr12:86683276-86683277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs570004803 | chr12:86683320-86683321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs193074710 | chr12:86683349-86683350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs61950671 | chr12:86683353-86683354 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs577127696 | chr12:86683385-86683386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs541100542 | chr12:86683391-86683392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs552798517 | chr12:86683402-86683403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534128632 | chr12:86683422-86683423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs143120662 | chr12:86683423-86683424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs541503761 | chr12:86683429-86683430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs561625462 | chr12:86683449-86683450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:86680200-86684600 | Weak transcription | Fetal Heart | heart |
