Variant report
Variant | esv3374555 |
---|---|
Chromosome Location | chr12:75751185-75753908 |
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 | rs146032455 | chr12:75751189-75751190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs139965645 | chr12:75751319-75751320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs536915927 | chr12:75751355-75751356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs556550515 | chr12:75751385-75751386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs191321188 | chr12:75751419-75751420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs555881868 | chr12:75751487-75751488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs374032291 | chr12:75751495-75751496 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112452345 | chr12:75751536-75751537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs151136602 | chr12:75751651-75751652 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs572833436 | chr12:75751754-75751755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs575994406 | chr12:75751767-75751768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs545609783 | chr12:75751829-75751830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs11180473 | chr12:75751880-75751881 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
14 | rs139111529 | chr12:75751899-75751900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs149908730 | chr12:75751910-75751911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs550526585 | chr12:75751921-75751922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs552390204 | chr12:75751966-75751967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs55856546 | chr12:75752046-75752047 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs530159142 | chr12:75752078-75752079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs34200562 | chr12:75752096-75752097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs374783156 | chr12:75752128-75752129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs572355691 | chr12:75752147-75752148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs540249668 | chr12:75752214-75752215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs560663583 | chr12:75752237-75752238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs76050931 | chr12:75752238-75752239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs74108721 | chr12:75752257-75752258 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs571071976 | chr12:75752261-75752262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs144932432 | chr12:75752295-75752296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs550510080 | chr12:75752300-75752301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs564643541 | chr12:75752340-75752341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs184592640 | chr12:75752363-75752364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201071454 | chr12:75752498-75752499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs141752193 | chr12:75752517-75752518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs142430106 | chr12:75752520-75752521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs201802966 | chr12:75752529-75752530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs552669827 | chr12:75752562-75752563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs567475623 | chr12:75752574-75752575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs566580574 | chr12:75752595-75752596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs190324889 | chr12:75752612-75752613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs34263443 | chr12:75752613-75752614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs559204622 | chr12:75752618-75752619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs112666558 | chr12:75752630-75752631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs575860597 | chr12:75752666-75752667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs113212906 | chr12:75752671-75752672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs200557765 | chr12:75752679-75752680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs75009372 | chr12:75752751-75752752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs555337078 | chr12:75752779-75752780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs575164278 | chr12:75752815-75752816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs182572255 | chr12:75752886-75752887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs560254946 | chr12:75752909-75752910 | 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 |
Breast cancer | 22522925 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:75749600-75782800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr12:75749800-75771800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |