Variant report
| Variant | nsv971888 |
|---|---|
| Chromosome Location | chr10:58508001-58513799 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs186105125 | chr10:58511617-58511618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs2025564 | chr10:58511654-58511655 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs117279062 | chr10:58511832-58511833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs115449221 | chr10:58511859-58511860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs575774885 | chr10:58511880-58511881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539963243 | chr10:58511892-58511893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs377661109 | chr10:58511907-58511908 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs7915402 | chr10:58511952-58511953 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs573390202 | chr10:58512029-58512030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540909005 | chr10:58512030-58512031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564534649 | chr10:58512062-58512063 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs141836484 | chr10:58512132-58512133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374004402 | chr10:58512151-58512152 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs554812309 | chr10:58512156-58512157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs147123887 | chr10:58512184-58512185 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs541383969 | chr10:58512193-58512194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs188224352 | chr10:58512196-58512197 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs527319034 | chr10:58512197-58512198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs530493004 | chr10:58512222-58512223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs180766197 | chr10:58512292-58512293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs116235027 | chr10:58512330-58512331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs1914560 | chr10:58512347-58512348 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs546777135 | chr10:58512378-58512379 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs568226463 | chr10:58512389-58512390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Obesity | 21956041 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Autism | 20841430 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Schizophrenia | 19329560 | CNVD |
| Heart failure | 18772530 | CNVD |
| Heart failure | 18854381 | CNVD |
| Hyperglycemia | 19060297 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Autism | 20858243 | CNVD |
| small cell lung cancer | 17426248 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:58511600-58512400 | Enhancers | Brain Germinal Matrix | brain |
