Variant report
| Variant | esv3411415 |
|---|---|
| Chromosome Location | chr3:80042197-80042543 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528018538 | chr3:80042209-80042210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548080660 | chr3:80042236-80042237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs558640261 | chr3:80042240-80042241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567779507 | chr3:80042277-80042278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs35937458 | chr3:80042306-80042307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370078594 | chr3:80042314-80042315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs556386797 | chr3:80042340-80042341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs17017453 | chr3:80042375-80042376 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs572194060 | chr3:80042381-80042382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114071630 | chr3:80042384-80042385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs375656462 | chr3:80042418-80042419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs572088133 | chr3:80042419-80042420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs540160257 | chr3:80042430-80042431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs554002682 | chr3:80042433-80042434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573766521 | chr3:80042464-80042465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs542852383 | chr3:80042486-80042487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs368642096 | chr3:80042498-80042499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs562530433 | chr3:80042509-80042510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs184353363 | chr3:80042517-80042518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs372000967 | chr3:80042530-80042531 | 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:80035800-80046400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
