Variant report
| Variant | nsv820253 |
|---|---|
| Chromosome Location | chr12:33529301-33529584 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9888320 | chr12:33529351-33529352 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs557217990 | chr12:33529376-33529377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570543159 | chr12:33529404-33529405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs142297650 | chr12:33529431-33529432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552906574 | chr12:33529472-33529473 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs573257908 | chr12:33529475-33529476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs542304347 | chr12:33529482-33529483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs10844566 | chr12:33529487-33529488 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs115907520 | chr12:33529538-33529539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs543766785 | chr12:33529557-33529558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs113367840 | chr12:33529567-33529568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | 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 |
| 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 |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chordoma | 18071362 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 21272361 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33525600-33534600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
