Variant report
Variant | nsv524180 |
---|---|
Chromosome Location | chr5:102925668-102933395 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- 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 | rs17155526 | chr5:102925668-102925669 | Flanking Active TSS Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs549538396 | chr5:102925669-102925670 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs139561547 | chr5:102925700-102925701 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs200784416 | chr5:102925702-102925703 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs200889759 | chr5:102925712-102925713 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs564414882 | chr5:102925714-102925715 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs569617205 | chr5:102925715-102925716 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs59147950 | chr5:102925717-102925718 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs202196944 | chr5:102925720-102925721 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs80179402 | chr5:102925723-102925724 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376041798 | chr5:102925740-102925741 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs73194002 | chr5:102925741-102925742 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532390374 | chr5:102925763-102925764 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs148499762 | chr5:102925768-102925769 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs565731492 | chr5:102925797-102925798 | Flanking Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs57721256 | chr5:102925820-102925821 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs11242496 | chr5:102925839-102925840 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | disease |
18 | rs530384652 | chr5:102925867-102925868 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs17155527 | chr5:102925899-102925900 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs537657206 | chr5:102925922-102925923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570241446 | chr5:102925927-102925928 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs369448435 | chr5:102925951-102925952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs17155530 | chr5:102925957-102925958 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs574428592 | chr5:102925958-102925959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs543343127 | chr5:102925981-102925982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs376189950 | chr5:102926016-102926017 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs75974329 | chr5:102926028-102926029 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs571992724 | chr5:102926038-102926039 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs540636499 | chr5:102926056-102926057 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs183626348 | chr5:102926058-102926059 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs371104281 | chr5:102926060-102926061 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs552254070 | chr5:102926068-102926069 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs11242497 | chr5:102926108-102926109 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs529197453 | chr5:102926133-102926134 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs188473122 | chr5:102926176-102926177 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs548841450 | chr5:102926202-102926203 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs12515051 | chr5:102926203-102926204 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs142884239 | chr5:102926244-102926245 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs551455974 | chr5:102926269-102926270 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs571725591 | chr5:102926301-102926302 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs374776636 | chr5:102926308-102926309 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs537535422 | chr5:102926362-102926363 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs538357861 | chr5:102926370-102926371 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs368199098 | chr5:102926375-102926376 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs201067732 | chr5:102926392-102926393 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs370526985 | chr5:102926394-102926395 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs113611665 | chr5:102926395-102926396 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs369737998 | chr5:102926398-102926399 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs397998883 | chr5:102926400-102926401 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs557638230 | chr5:102926407-102926408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Metanephric adenoma | 20802469 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Cancer | 16751803 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioma | 20126413 | CNVD |
Breast cancer | 17393978 | CNVD |
Cancer | 21359685 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
adenomatous polyposis | 22470819 | CNVD |
Cancer | 22429812 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Liposarcoma | 21253554 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Breast cancer | 21858162 | CNVD |
Leukemia | 17361228 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
5q-syndrome | 17576883 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 16740712 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
Lung cancer | 18438408 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Breast cancer | 21785460 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 17133270 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16573809 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Cancer | 20164920 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
abnormal development | 18461090 | CNVD |
Colorectal cancer | 16774939 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Neurocytoma | 17123091 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 16608533 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Melanoma | 20877625 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:102924800-102925800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
2 | chr5:102924800-102925800 | Enhancers | Muscle Satellite Cultured Cells | -- |
3 | chr5:102924800-102926000 | Enhancers | Osteobl | bone |
4 | chr5:102925000-102925800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr5:102925000-102925800 | Enhancers | NH-A | brain |
6 | chr5:102925000-102926400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr5:102925400-102925800 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr5:102925800-102926200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr5:102926000-102934600 | Weak transcription | Osteobl | bone |
10 | chr5:102926400-102929000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
11 | chr5:102928200-102928600 | Enhancers | Liver | Liver |
12 | chr5:102928600-102930600 | Weak transcription | Liver | Liver |
13 | chr5:102929400-102933400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
14 | chr5:102933200-102933800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |