Variant report
| Variant | nsv1049248 |
|---|---|
| Chromosome Location | chr10:58729512-58751974 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs530017848 | chr10:58734612-58734613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548545080 | chr10:58734663-58734664 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149284098 | chr10:58734691-58734692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs117460760 | chr10:58734768-58734769 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12414965 | chr10:58734786-58734787 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs183954955 | chr10:58734790-58734791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189121714 | chr10:58734791-58734792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs76171403 | chr10:58734796-58734797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs540682973 | chr10:58736651-58736652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs562161187 | chr10:58736675-58736676 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147719509 | chr10:58736685-58736686 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs372309708 | chr10:58736760-58736761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs369100398 | chr10:58736784-58736785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188259760 | chr10:58736828-58736829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs533439199 | chr10:58736831-58736832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs551885301 | chr10:58736839-58736840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73281183 | chr10:58736867-58736868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs376460773 | chr10:58736872-58736873 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs374954421 | chr10:58736883-58736884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs561190841 | chr10:58736886-58736887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs185494692 | chr10:58736896-58736897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs139770483 | chr10:58736902-58736903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs535680403 | chr10:58736903-58736904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs188026188 | chr10:58736935-58736936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs140883147 | chr10:58736944-58736945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs191272466 | chr10:58736983-58736984 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:58734600-58734800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr10:58736600-58737000 | Enhancers | Fetal Heart | heart |
