Variant report
Variant | esv3490374 |
---|---|
Chromosome Location | chr12:85363335-85364585 |
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 | rs115280135 | chr12:85363352-85363353 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs528885363 | chr12:85363371-85363372 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs531626869 | chr12:85363392-85363393 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs550057468 | chr12:85363456-85363457 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs368163833 | chr12:85363462-85363463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs571469294 | chr12:85363468-85363469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs12322028 | chr12:85363474-85363475 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs551617480 | chr12:85363557-85363558 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs143612737 | chr12:85363584-85363585 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs533985714 | chr12:85363598-85363599 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs542652146 | chr12:85363634-85363635 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs372867777 | chr12:85363656-85363657 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs567283636 | chr12:85363669-85363670 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs148067070 | chr12:85363672-85363673 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556414582 | chr12:85363708-85363709 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs187903412 | chr12:85363711-85363712 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs112200483 | chr12:85363716-85363717 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs559362438 | chr12:85363722-85363723 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs564873591 | chr12:85363724-85363725 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs545565086 | chr12:85363731-85363732 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532132604 | chr12:85363803-85363804 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs145021908 | chr12:85363811-85363812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs191560969 | chr12:85363870-85363871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs553612593 | chr12:85363883-85363884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs182730646 | chr12:85363909-85363910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs542298482 | chr12:85363927-85363928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113903284 | chr12:85363969-85363970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370251548 | chr12:85363984-85363985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560875165 | chr12:85364064-85364065 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs531285653 | chr12:85364067-85364068 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs76456628 | chr12:85364113-85364114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs112368380 | chr12:85364126-85364127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186681415 | chr12:85364166-85364167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs138810300 | chr12:85364180-85364181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs550599132 | chr12:85364181-85364182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs11829341 | chr12:85364183-85364184 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Autism | 22495311 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21949216 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 21637783 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17899364 | CNVD |
Cancer | 16751803 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Breast cancer | 22032731 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 21364760 | CNVD |
Cancer | 20164920 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:85341800-85363800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr12:85362400-85363600 | Enhancers | NHEK | skin |
3 | chr12:85362600-85363400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
4 | chr12:85363200-85363800 | Enhancers | HMEC | breast |
5 | chr12:85363400-85364200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
6 | chr12:85363800-85364000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |