Variant report
| Variant | esv3366509 |
|---|---|
| Chromosome Location | chr16:48714049-48714365 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7185899 | chr16:48714101-48714102 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs543684475 | chr16:48714126-48714127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs11648101 | chr16:48714178-48714179 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs374121884 | chr16:48714189-48714190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs549319330 | chr16:48714201-48714202 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs183692256 | chr16:48714229-48714230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs377605376 | chr16:48714231-48714232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs528756603 | chr16:48714232-48714233 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs189141516 | chr16:48714259-48714260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs571647059 | chr16:48714269-48714270 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537242975 | chr16:48714273-48714274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557136063 | chr16:48714312-48714313 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs569692406 | chr16:48714313-48714314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs370572264 | chr16:48714320-48714321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs200749773 | chr16:48714341-48714342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs142723506 | chr16:48714342-48714343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs150767257 | chr16:48714343-48714344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs397970488 | chr16:48714346-48714347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs201719253 | chr16:48714347-48714348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs200059352 | chr16:48714350-48714351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs373400321 | chr16:48714361-48714362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs532802013 | chr16:48714362-48714363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Disease | 22140031 | CNVD |
| Non-syndromic sensorineural hearing loss | 22140031 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:48713600-48715400 | Enhancers | Brain Germinal Matrix | brain |
