Variant report
Variant | esv3364857 |
---|---|
Chromosome Location | chr12:85650021-85652019 |
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 | rs575767599 | chr12:85650030-85650031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs372854590 | chr12:85650061-85650062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544390868 | chr12:85650107-85650108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs542398824 | chr12:85650209-85650210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs556385718 | chr12:85650225-85650226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs11834339 | chr12:85650237-85650238 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs545385809 | chr12:85650238-85650239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs190104188 | chr12:85650240-85650241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs374887989 | chr12:85650256-85650257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181145957 | chr12:85650257-85650258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs145140939 | chr12:85650262-85650263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs572535400 | chr12:85650265-85650266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs79299881 | chr12:85650363-85650364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs561350378 | chr12:85650378-85650379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs531890218 | chr12:85650384-85650385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113146003 | chr12:85650401-85650402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs549957402 | chr12:85650421-85650422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs185339168 | chr12:85650454-85650455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142262836 | chr12:85650515-85650516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs9651975 | chr12:85650539-85650540 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs564796345 | chr12:85650586-85650587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs190198645 | chr12:85650594-85650595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs35609457 | chr12:85650623-85650624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs535856235 | chr12:85650624-85650625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs547822815 | chr12:85650659-85650660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368345622 | chr12:85650814-85650815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs11837882 | chr12:85650819-85650820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs372685290 | chr12:85650822-85650823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs541495250 | chr12:85650824-85650825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs530643270 | chr12:85650834-85650835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs182060879 | chr12:85650851-85650852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs12321499 | chr12:85650853-85650854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs377314984 | chr12:85650861-85650862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369912096 | chr12:85650862-85650863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs371679444 | chr12:85650865-85650866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs376220732 | chr12:85650882-85650883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs374994329 | chr12:85650885-85650886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186003354 | chr12:85650891-85650892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs536752679 | chr12:85650896-85650897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs36128951 | chr12:85650902-85650903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs370261873 | chr12:85650906-85650907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs11116762 | chr12:85650914-85650915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs77083530 | chr12:85650915-85650916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs369375998 | chr12:85650921-85650922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs372954886 | chr12:85650927-85650928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs376191856 | chr12:85650940-85650941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs192266361 | chr12:85650941-85650942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs373421566 | chr12:85650949-85650950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs374597570 | chr12:85650952-85650953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs376331561 | chr12:85650954-85650955 | 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 |
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 | chr12:85650000-85651200 | Weak transcription | A549 | lung |
2 | chr12:85651200-85651400 | Enhancers | A549 | lung |