Variant report
| Variant | esv3413066 |
|---|---|
| Chromosome Location | chr2:35801314-35801838 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs190815397 | chr2:35801322-35801323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs555580785 | chr2:35801327-35801328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2719114 | chr2:35801347-35801348 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs554546675 | chr2:35801356-35801357 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs577306399 | chr2:35801357-35801358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201218394 | chr2:35801364-35801365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142241182 | chr2:35801365-35801366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs541254092 | chr2:35801390-35801391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs117549792 | chr2:35801426-35801427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs2007672 | chr2:35801430-35801431 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs184092873 | chr2:35801442-35801443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563703502 | chr2:35801445-35801446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs531229351 | chr2:35801500-35801501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs549803514 | chr2:35801529-35801530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs188629246 | chr2:35801533-35801534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs529025929 | chr2:35801604-35801605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs533225898 | chr2:35801611-35801612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs547274248 | chr2:35801682-35801683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs192924554 | chr2:35801747-35801748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs934970 | chr2:35801817-35801818 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs558735944 | chr2:35801833-35801834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:35800800-35803200 | Weak transcription | Pancreas | Pancrea |
