Variant report
| Variant | esv3433215 |
|---|---|
| Chromosome Location | chr3:59964174-59964412 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs566190377 | chr3:59964191-59964192 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs71313737 | chr3:59964234-59964235 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572312991 | chr3:59964239-59964240 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9820451 | chr3:59964248-59964249 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs564453550 | chr3:59964286-59964287 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs147704586 | chr3:59964291-59964292 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs17031569 | chr3:59964309-59964310 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs561706664 | chr3:59964337-59964338 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs529546641 | chr3:59964338-59964339 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537022085 | chr3:59964354-59964355 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547730309 | chr3:59964361-59964362 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566016866 | chr3:59964363-59964364 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs576133576 | chr3:59964372-59964373 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs116091222 | chr3:59964373-59964374 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs551922359 | chr3:59964381-59964382 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375595385 | chr3:59964402-59964403 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112292324 | chr3:59964407-59964408 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 19490591 | CNVD |
| Autism | 18414403 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Metastatic melanoma | 17975146 | CNVD |
| Cancer | 18162546 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Cancer | 20164920 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Autism | 22102821 | CNVD |
| Prostate cancer | 19363497 | CNVD |
| Malaria | 21533027 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164919 | CNVD |
| Colorectal cancer | 21518781 | CNVD |
| Esophageal cancer | 21518781 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:59943200-59964400 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 2 | chr3:59952000-59964400 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
| 3 | chr3:59956200-59964200 | Weak transcription | Fetal Thymus | thymus |
| 4 | chr3:59961600-59969000 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
| 5 | chr3:59962000-59964600 | Weak transcription | Dnd41 | blood |
| 6 | chr3:59962800-59964600 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
| 7 | chr3:59963000-59969400 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
| 8 | chr3:59963800-59964800 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 9 | chr3:59964000-59967800 | Enhancers | Primary T cells from cord blood | blood |
| 10 | chr3:59964200-59967400 | Enhancers | Fetal Thymus | thymus |
| 11 | chr3:59964400-59964600 | Enhancers | GM12878-XiMat | blood |
| 12 | chr3:59964400-59965000 | Enhancers | Primary T cells fromperipheralblood | blood |
| 13 | chr3:59964400-59967400 | Enhancers | Thymus | Thymus |
| 14 | chr3:59964400-59968400 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
| 15 | chr3:59964400-59970600 | Enhancers | Primary T helper naive cells from peripheral blood | blood |
