Variant report
| Variant | esv3420219 |
|---|---|
| Chromosome Location | chr10:59229746-59233194 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532991568 | chr10:59232605-59232606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555627992 | chr10:59232635-59232636 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375518879 | chr10:59232636-59232637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567497533 | chr10:59232641-59232642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs561462916 | chr10:59232656-59232657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534794919 | chr10:59232688-59232689 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs533916432 | chr10:59232698-59232699 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139310350 | chr10:59232794-59232795 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs567615120 | chr10:59232801-59232802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs75761311 | chr10:59232891-59232892 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540004666 | chr10:59232912-59232913 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs376458001 | chr10:59232947-59232948 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190083628 | chr10:59232948-59232949 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs76909741 | chr10:59232973-59232974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs78889411 | chr10:59232975-59232976 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs114086283 | chr10:59233008-59233009 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs540213927 | chr10:59233014-59233015 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs182624756 | chr10:59233027-59233028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs186601279 | chr10:59233031-59233032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs544456016 | chr10:59233043-59233044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs35227130 | chr10:59233063-59233064 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs115317265 | chr10:59233078-59233079 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs551320926 | chr10:59233110-59233111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs560612416 | chr10:59233118-59233119 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs114322929 | chr10:59233129-59233130 | 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 |
| small cell lung cancer | 17426248 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:59232600-59233200 | Enhancers | A549 | lung |
| 2 | chr10:59232600-59234000 | Enhancers | Hela-S3 | cervix |
