Variant report
Variant | esv3656 |
---|---|
Chromosome Location | chr12:105680909-105681748 |
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 | rs74828512 | chr12:105680937-105680938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs143502140 | chr12:105680974-105680975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs536509717 | chr12:105681045-105681046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs553649567 | chr12:105681100-105681101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs533604979 | chr12:105681119-105681120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs573308959 | chr12:105681120-105681121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs368666438 | chr12:105681157-105681158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs10861376 | chr12:105681186-105681187 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs147201930 | chr12:105681238-105681239 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs79898742 | chr12:105681248-105681249 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs185899298 | chr12:105681274-105681275 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs148655335 | chr12:105681293-105681294 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574391191 | chr12:105681300-105681301 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs75212021 | chr12:105681322-105681323 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs560402009 | chr12:105681339-105681340 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs190655357 | chr12:105681355-105681356 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs552389508 | chr12:105681374-105681375 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs565034844 | chr12:105681392-105681393 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs530941679 | chr12:105681425-105681426 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs550546729 | chr12:105681508-105681509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs567293688 | chr12:105681523-105681524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs530107426 | chr12:105681585-105681586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs546936976 | chr12:105681596-105681597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs567192401 | chr12:105681608-105681609 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs538851171 | chr12:105681673-105681674 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs75232757 | chr12:105681676-105681677 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs12827086 | chr12:105681677-105681678 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs369885199 | chr12:105681696-105681697 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs182514770 | chr12:105681710-105681711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs73399769 | chr12:105681719-105681720 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs10861377 | chr12:105681746-105681747 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Endometrioid adenocarcinoma | 16974079 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21390271 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 22032731 | CNVD |
Cancer | 16751803 | 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 |
Wilms tumour | 21544195 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Colorectal cancer | 16272173 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 16397240 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Breast cancer | 17133270 | CNVD |
Chronic lymphocytic leukemia | 21049055 | CNVD |
Neurocytoma | 17123091 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21364760 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:105675800-105681200 | Weak transcription | Stomach Mucosa | stomach |
2 | chr12:105676200-105681400 | Weak transcription | HepG2 | liver |
3 | chr12:105676400-105681400 | Weak transcription | A549 | lung |
4 | chr12:105681200-105682400 | Enhancers | Stomach Mucosa | stomach |
5 | chr12:105681400-105681800 | Enhancers | HepG2 | liver |
6 | chr12:105681600-105682200 | Enhancers | Gastric | stomach |
7 | chr12:105681600-105686200 | Weak transcription | A549 | lung |