Variant report
| Variant | esv3330769 |
|---|---|
| Chromosome Location | chr2:31927908-31928336 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs368042237 | chr2:31927915-31927916 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs565061620 | chr2:31927920-31927921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112745355 | chr2:31927946-31927947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540712066 | chr2:31927987-31927988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs145184838 | chr2:31928032-31928033 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529754512 | chr2:31928082-31928083 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186903592 | chr2:31928094-31928095 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs563888239 | chr2:31928114-31928115 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532785423 | chr2:31928137-31928138 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs552780606 | chr2:31928148-31928149 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs566290069 | chr2:31928182-31928183 | Flanking Active TSS ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs545709440 | chr2:31928229-31928230 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs535285430 | chr2:31928230-31928231 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs806590 | chr2:31928285-31928286 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs377088502 | chr2:31928287-31928288 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568417066 | chr2:31928317-31928318 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 16790693 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| 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 |
| 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 |
| 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 |
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:31927800-31928000 | Enhancers | Liver | Liver |
| 2 | chr2:31928000-31928200 | Flanking Active TSS | Liver | Liver |
| 3 | chr2:31928000-31928200 | ZNF genes & repeats | Gastric | stomach |
| 4 | chr2:31928200-31928800 | Enhancers | Liver | Liver |
| 5 | chr2:31928200-31931000 | Weak transcription | Gastric | stomach |
