Variant report
Variant | esv1006356 |
---|---|
Chromosome Location | chr12:75856842-75860090 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs563644265 | chr12:75856884-75856885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs529518994 | chr12:75856930-75856931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs548984942 | chr12:75856960-75856961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs191337552 | chr12:75857064-75857065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs9750302 | chr12:75857073-75857074 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs528466243 | chr12:75857081-75857082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs182974543 | chr12:75857107-75857108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550826219 | chr12:75857110-75857111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs558242864 | chr12:75857154-75857155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs564594543 | chr12:75857167-75857168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs4420306 | chr12:75857204-75857205 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
12 | rs539651896 | chr12:75857295-75857296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs150612913 | chr12:75857309-75857310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569987362 | chr12:75857318-75857319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs535714324 | chr12:75857369-75857370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs546827490 | chr12:75857370-75857371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571971168 | chr12:75857393-75857394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs534606250 | chr12:75857409-75857410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs188726326 | chr12:75857468-75857469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs577622921 | chr12:75857488-75857489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs78949279 | chr12:75857510-75857511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs34634341 | chr12:75857531-75857532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs71438902 | chr12:75857532-75857533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs398044528 | chr12:75857547-75857548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs74711199 | chr12:75857580-75857581 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs543633723 | chr12:75857603-75857604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs563508675 | chr12:75857610-75857611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs12423306 | chr12:75857627-75857628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs573883562 | chr12:75857652-75857653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs139671161 | chr12:75857698-75857699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs559993123 | chr12:75857722-75857723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs528519338 | chr12:75857746-75857747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs370080229 | chr12:75857765-75857766 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs551709981 | chr12:75857770-75857771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs375524104 | chr12:75857800-75857801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144099234 | chr12:75857806-75857807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs367689012 | chr12:75857809-75857810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs565236950 | chr12:75857814-75857815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs193298149 | chr12:75857854-75857855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs151044675 | chr12:75857869-75857870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs377286032 | chr12:75857870-75857871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs569897316 | chr12:75857887-75857888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs61932219 | chr12:75857889-75857890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs78057359 | chr12:75857935-75857936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs76485425 | chr12:75857939-75857940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs73612569 | chr12:75857953-75857954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs73612568 | chr12:75857973-75857974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs115313266 | chr12:75858011-75858012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs549051817 | chr12:75858018-75858019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs372305447 | chr12:75858042-75858043 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
Neurodevelopmental disorder | 22521361 | 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 |
Colorectal cancer | 16272173 | 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 |
Breast cancer | 21785460 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
craniofacial dysmorphism | 21918468 | 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 |
Hodgkin''s lymphoma | 18641027 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:75851400-75867800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |