Variant report
Variant | esv3514776 |
---|---|
Chromosome Location | chr2:30606898-30610296 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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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 |
22 | rs539241829 | chr2:30608607-30608608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs564713293 | chr2:30608618-30608619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs559148306 | chr2:30608648-30608649 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566397483 | chr2:30608671-30608672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs551361719 | chr2:30608690-30608691 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs189110332 | chr2:30608697-30608698 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs7583844 | chr2:30608719-30608720 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs573580426 | chr2:30608731-30608732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs542398982 | chr2:30608776-30608777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |