Variant report
| Variant | esv3428020 |
|---|---|
| Chromosome Location | chr3:60140427-60140862 |
| 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 | rs191018285 | chr3:60140448-60140449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138951220 | chr3:60140471-60140472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs541802666 | chr3:60140483-60140484 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs560238229 | chr3:60140522-60140523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7615407 | chr3:60140553-60140554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs183114505 | chr3:60140606-60140607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs141401725 | chr3:60140634-60140635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs185948954 | chr3:60140642-60140643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115211879 | chr3:60140647-60140648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs527398509 | chr3:60140676-60140677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs529317227 | chr3:60140682-60140683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs7645950 | chr3:60140683-60140684 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs7623184 | chr3:60140696-60140697 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs568821369 | chr3:60140697-60140698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540150617 | chr3:60140705-60140706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs532656107 | chr3:60140722-60140723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs7646022 | chr3:60140733-60140734 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs191629620 | chr3:60140748-60140749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs552505205 | chr3:60140765-60140766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs73097555 | chr3:60140771-60140772 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs536211279 | chr3:60140805-60140806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs7646126 | chr3:60140831-60140832 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs535135942 | chr3:60140844-60140845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs371458636 | chr3:60140848-60140849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs577340307 | chr3:60140852-60140853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:98)
| 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 |
| Colorectal cancer | 21518781 | CNVD |
| Esophageal cancer | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Glioblastoma multiforme | 21569311 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:60123400-60141200 | Weak transcription | Pancreas | Pancrea |
| 2 | chr3:60124800-60145400 | Weak transcription | Thymus | Thymus |
| 3 | chr3:60139600-60161600 | Weak transcription | Aorta | Aorta |
| 4 | chr3:60140200-60146600 | Weak transcription | Fetal Heart | heart |
