Variant report
| Variant | esv3449289 |
|---|---|
| Chromosome Location | chr12:42207677-42207941 |
| 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 | rs545370067 | chr12:42207691-42207692 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548980024 | chr12:42207696-42207697 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs531874584 | chr12:42207742-42207743 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544104680 | chr12:42207745-42207746 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562114177 | chr12:42207786-42207787 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144441039 | chr12:42207800-42207801 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs180736983 | chr12:42207806-42207807 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186039363 | chr12:42207817-42207818 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs566158612 | chr12:42207820-42207821 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533514031 | chr12:42207827-42207828 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs567553038 | chr12:42207828-42207829 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs373136287 | chr12:42207858-42207859 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551792140 | chr12:42207869-42207870 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs570077974 | chr12:42207879-42207880 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs4569059 | chr12:42207911-42207912 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs12099975 | chr12:42207920-42207921 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs568126071 | chr12:42207932-42207933 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Cancer | 20164919 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42207600-42208800 | ZNF genes & repeats | Aorta | Aorta |
