Variant report
| Variant | esv3509346 |
|---|---|
| Chromosome Location | chr2:40978047-40978586 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs36191525 | chr2:40978051-40978052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184434300 | chr2:40978053-40978054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs13012187 | chr2:40978146-40978147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs13012391 | chr2:40978177-40978178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188725576 | chr2:40978191-40978192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs531836067 | chr2:40978193-40978194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs4952648 | chr2:40978200-40978201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs193073729 | chr2:40978204-40978205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs562173207 | chr2:40978233-40978234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529448742 | chr2:40978250-40978251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs4952426 | chr2:40978268-40978269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs565968822 | chr2:40978295-40978296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533344730 | chr2:40978322-40978323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551400715 | chr2:40978329-40978330 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1975796 | chr2:40978369-40978370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs569904819 | chr2:40978397-40978398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs536850495 | chr2:40978421-40978422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs113010240 | chr2:40978460-40978461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs567112139 | chr2:40978463-40978464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs376256563 | chr2:40978469-40978470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs370668142 | chr2:40978471-40978472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs534457232 | chr2:40978532-40978533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs28704849 | chr2:40978558-40978559 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:58)
| 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 |
| 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 |
| 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 | 22495311 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:40975000-40979000 | Weak transcription | Muscle Satellite Cultured Cells | -- |
