Variant report
| Variant | esv3429985 |
|---|---|
| Chromosome Location | chr3:80553562-80557360 |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189799116 | chr3:80556425-80556426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs572025731 | chr3:80556434-80556435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540695923 | chr3:80556435-80556436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs116901412 | chr3:80556460-80556461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113640942 | chr3:80556477-80556478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200105958 | chr3:80556552-80556553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs370699479 | chr3:80556578-80556579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs532136448 | chr3:80556588-80556589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182075664 | chr3:80556616-80556617 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563145802 | chr3:80556636-80556637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148987201 | chr3:80556647-80556648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs552076104 | chr3:80556681-80556682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs565863845 | chr3:80556724-80556725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs561415924 | chr3:80556728-80556729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs186984943 | chr3:80556734-80556735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs547515595 | chr3:80556748-80556749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs73123763 | chr3:80556752-80556753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs536749177 | chr3:80556758-80556759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs115625306 | chr3:80556806-80556807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs556757044 | chr3:80556813-80556814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs58943270 | chr3:80556842-80556843 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs74685219 | chr3:80556918-80556919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs559178768 | chr3:80556926-80556927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs374113526 | chr3:80556933-80556934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs572681967 | chr3:80556935-80556936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs35577120 | chr3:80556941-80556942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs2372661 | chr3:80556953-80556954 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs542002412 | chr3:80556954-80556955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs183305611 | chr3:80556991-80556992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs574425844 | chr3:80557039-80557040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs543123807 | chr3:80557076-80557077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs571456529 | chr3:80557125-80557126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs1913635 | chr3:80557195-80557196 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs188361686 | chr3:80557278-80557279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs547872615 | chr3:80557329-80557330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs190225173 | chr3:80557338-80557339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs34003621 | chr3:80557350-80557351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs77920492 | chr3:80557353-80557354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | 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 |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hirschsprung''s Disease | 21712996 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Autism | 20808228 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:80556400-80565800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
