Variant report
| Variant | esv3437289 |
|---|---|
| Chromosome Location | chr2:31318966-31319295 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs574054131 | chr2:31318979-31318980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375899202 | chr2:31318980-31318981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs552285506 | chr2:31318984-31318985 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs566389776 | chr2:31318997-31318998 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534989495 | chr2:31319017-31319018 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs62142996 | chr2:31319069-31319070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548826452 | chr2:31319109-31319110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs568334885 | chr2:31319112-31319113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs182729507 | chr2:31319137-31319138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs6743541 | chr2:31319146-31319147 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs575726579 | chr2:31319182-31319183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs538675965 | chr2:31319183-31319184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558247194 | chr2:31319242-31319243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs186812921 | chr2:31319292-31319293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Cancer | 16751803 | CNVD |
| Neuroblastoma | 16790693 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | 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 |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | 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 |
| Medulloblastoma | 16968546 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:31302000-31321400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr2:31302600-31325200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
| 3 | chr2:31307400-31331600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 4 | chr2:31310600-31320800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr2:31310600-31346800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 6 | chr2:31313000-31321000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 7 | chr2:31314800-31320800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 8 | chr2:31316000-31320400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr2:31318200-31320400 | Weak transcription | NHEK | skin |
