Variant report
| Variant | esv3527836 |
|---|---|
| Chromosome Location | chr2:30607672-30608535 |
| 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 | rs12471481 | chr2:30608003-30608004 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs544731575 | chr2:30608022-30608023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7580471 | chr2:30608028-30608029 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs572734335 | chr2:30608054-30608055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147810293 | chr2:30608060-30608061 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs72865618 | chr2:30608099-30608100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7583194 | chr2:30608160-30608161 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs542687131 | chr2:30608178-30608179 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs75478514 | chr2:30608295-30608296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114114642 | chr2:30608296-30608297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs544764747 | chr2:30608319-30608320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs564841530 | chr2:30608325-30608326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs7557742 | chr2:30608333-30608334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547492389 | chr2:30608335-30608336 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs7557751 | chr2:30608352-30608353 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs189720741 | chr2:30608353-30608354 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs182064868 | chr2:30608355-30608356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs531632928 | chr2:30608437-30608438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs371004905 | chr2:30608469-30608470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs199961171 | chr2:30608486-30608487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs148874402 | chr2:30608534-30608535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| 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 |
| Tetralogy of Fallot | 22912587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:30608000-30608800 | Enhancers | Fetal Intestine Large | intestine |
| 2 | chr2:30608400-30608600 | Enhancers | Fetal Intestine Small | intestine |
