Variant report
| Variant | nsv559003 |
|---|---|
| Chromosome Location | chr12:55975841-55978970 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12313844 | chr12:55975841-55975842 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs373438783 | chr12:55975848-55975849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181003579 | chr12:55975867-55975868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542612248 | chr12:55975888-55975889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs554626811 | chr12:55975911-55975912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576788110 | chr12:55975913-55975914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs544165739 | chr12:55975929-55975930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs10783760 | chr12:55975963-55975964 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs73114934 | chr12:55975987-55975988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs368832595 | chr12:55976011-55976012 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564252919 | chr12:55976038-55976039 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs116759250 | chr12:55976057-55976058 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs559762916 | chr12:55976080-55976081 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535312186 | chr12:55976082-55976083 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548154647 | chr12:55976106-55976107 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs145195982 | chr12:55976123-55976124 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs563373000 | chr12:55976165-55976166 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs147990261 | chr12:55976183-55976184 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 20531469 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Rhabdomyosarcoma | 16790082 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:55974400-55976000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr12:55976000-55976200 | Active TSS | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
