Variant report
Variant | esv3361177 |
---|---|
Chromosome Location | chr6:56189443-56191691 |
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 | rs185313719 | chr6:56189450-56189451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs549422960 | chr6:56189458-56189459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs7775317 | chr6:56189465-56189466 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs566316425 | chr6:56189477-56189478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs140226728 | chr6:56189506-56189507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs535395132 | chr6:56189547-56189548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs560963026 | chr6:56189555-56189556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs190210030 | chr6:56189563-56189564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs115431552 | chr6:56189624-56189625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs10733185 | chr6:56189626-56189627 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs145346280 | chr6:56189638-56189639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs10733186 | chr6:56189640-56189641 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs533664988 | chr6:56189701-56189702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs193147094 | chr6:56189722-56189723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs146437231 | chr6:56189732-56189733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs547629603 | chr6:56189739-56189740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs184725453 | chr6:56189792-56189793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs188311056 | chr6:56189793-56189794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs10755782 | chr6:56189800-56189801 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs116339312 | chr6:56189831-56189832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs11965828 | chr6:56189838-56189839 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs10755783 | chr6:56189856-56189857 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs551920290 | chr6:56189899-56189900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs559006870 | chr6:56189901-56189902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs529843156 | chr6:56189935-56189936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs571444458 | chr6:56189951-56189952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs367756035 | chr6:56189956-56189957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs371453051 | chr6:56189969-56189970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs537128789 | chr6:56189988-56189989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs112339492 | chr6:56190013-56190014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs72544262 | chr6:56190040-56190041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs140812633 | chr6:56190069-56190070 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs199960035 | chr6:56190073-56190074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs80197867 | chr6:56190090-56190091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs376035753 | chr6:56190115-56190116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs369490630 | chr6:56190119-56190120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs372748893 | chr6:56190129-56190130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs376277604 | chr6:56190130-56190131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs564166577 | chr6:56190141-56190142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs370705527 | chr6:56190154-56190155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs373566725 | chr6:56190165-56190166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs376435894 | chr6:56190175-56190176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs370970517 | chr6:56190179-56190180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs13193563 | chr6:56190180-56190181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs13193566 | chr6:56190191-56190192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs13209715 | chr6:56190192-56190193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs180739114 | chr6:56190206-56190207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs374375881 | chr6:56190207-56190208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs369910722 | chr6:56190210-56190211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs367597231 | chr6:56190211-56190212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Osteosarcoma | 16790693 | 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 |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Neurocytoma | 17123091 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 16608533 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Neuroblastoma | 19686582 | CNVD |
Neuroblastoma | 17289879 | CNVD |
Breast cancer | 17899364 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Colorectal cancer | 16912164 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Central neurocytomas | 17123091 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:56186800-56189600 | Weak transcription | Aorta | Aorta |
2 | chr6:56189400-56193600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |