Variant report
| Variant | nsv947618 |
|---|---|
| Chromosome Location | chr10:55415670-55418187 |
| 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:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs377626695 | chr10:55417608-55417609 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs75680813 | chr10:55417643-55417644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs11003738 | chr10:55417646-55417647 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs7084570 | chr10:55417666-55417667 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs542942349 | chr10:55417676-55417677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs549364902 | chr10:55417684-55417685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs116258151 | chr10:55417701-55417702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs559664492 | chr10:55417737-55417738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs138747440 | chr10:55417754-55417755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs573293719 | chr10:55417770-55417771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs558222932 | chr10:55417789-55417790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183761305 | chr10:55417790-55417791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs34362351 | chr10:55417803-55417804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs562818109 | chr10:55417818-55417819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs141581441 | chr10:55417821-55417822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs557250626 | chr10:55417880-55417881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs540249046 | chr10:55417899-55417900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs188479838 | chr10:55417937-55417938 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs181505190 | chr10:55417962-55417963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs377055565 | chr10:55417969-55417970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs77067103 | chr10:55417973-55417974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs114452434 | chr10:55417997-55417998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs576234235 | chr10:55418004-55418005 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs373609791 | chr10:55418011-55418012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs375401374 | chr10:55418012-55418013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs11003740 | chr10:55418087-55418088 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs375723651 | chr10:55418142-55418143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs546911710 | chr10:55418152-55418153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| 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 |
| Developmental delay | 21948486 | CNVD |
| Intellectual disability | 21948486 | 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 |
| Colorectal cancer | 16774939 | CNVD |
| Autism | 20858243 | CNVD |
| Melanoma | 17363583 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Usher type I cohort | 17277737 | CNVD |
| Usher type I cohort | 21436283 | CNVD |
| Leukemia | 21357790 | CNVD |
| Medulloblastoma | 22832581 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:55417600-55418400 | Enhancers | Fetal Heart | heart |
