Variant report
Variant | nsv972532 |
---|---|
Chromosome Location | chr8:110064497-110071447 |
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 | rs571613226 | chr8:110064555-110064556 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
2 | rs377640930 | chr8:110064607-110064608 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
3 | rs144109708 | chr8:110064609-110064610 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
4 | rs552737055 | chr8:110064622-110064623 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
5 | rs572748557 | chr8:110064639-110064640 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
6 | rs544880473 | chr8:110064646-110064647 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79136372 | chr8:110064723-110064724 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
8 | rs370168916 | chr8:110064726-110064727 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
9 | rs530390643 | chr8:110064729-110064730 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
10 | rs147287281 | chr8:110064738-110064739 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
11 | rs544199670 | chr8:110064750-110064751 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
12 | rs560782144 | chr8:110064774-110064775 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
13 | rs139268172 | chr8:110064783-110064784 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
14 | rs149368414 | chr8:110064824-110064825 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
15 | rs13271445 | chr8:110064831-110064832 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
16 | rs527916330 | chr8:110064839-110064840 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
17 | rs199696453 | chr8:110064859-110064860 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
18 | rs71515934 | chr8:110064864-110064865 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
19 | rs199942799 | chr8:110064865-110064866 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
20 | rs200514159 | chr8:110064866-110064867 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
21 | rs144751712 | chr8:110064897-110064898 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs532789751 | chr8:110064915-110064916 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs148502477 | chr8:110064923-110064924 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs569595615 | chr8:110064937-110064938 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs72678620 | chr8:110065040-110065041 | Enhancers Weak transcription Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs183390893 | chr8:110065043-110065044 | Enhancers Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs188057843 | chr8:110065061-110065062 | Enhancers Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190353531 | chr8:110065099-110065100 | Enhancers Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs556850782 | chr8:110065159-110065160 | Enhancers Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
30 | rs534293601 | chr8:110065271-110065272 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs375664033 | chr8:110065293-110065294 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs553875968 | chr8:110065378-110065379 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs572685250 | chr8:110065379-110065380 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs377441652 | chr8:110065392-110065393 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs369215935 | chr8:110065401-110065402 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs182910928 | chr8:110065408-110065409 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs372684449 | chr8:110065452-110065453 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs375988783 | chr8:110065462-110065463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs13275686 | chr8:110065501-110065502 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs538223244 | chr8:110065529-110065530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs34092259 | chr8:110065535-110065536 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs117670701 | chr8:110065602-110065603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs142842489 | chr8:110065631-110065632 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs532727088 | chr8:110065660-110065661 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs150617473 | chr8:110065689-110065690 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs532379140 | chr8:110065693-110065694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs374102845 | chr8:110065769-110065770 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs562997909 | chr8:110065803-110065804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs532020336 | chr8:110065812-110065813 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs548645481 | chr8:110065890-110065891 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Gastric cancer | 17908304 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 17603634 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Cancer | 20164919 | CNVD |
abnormal development | 18461090 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastric cancer | 22539939 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Oral squamous cell carcinoma | 21853135 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:110064000-110064600 | Flanking Active TSS | A549 | lung |
2 | chr8:110064200-110064800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr8:110064200-110065000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr8:110064600-110065000 | Enhancers | NH-A | brain |
5 | chr8:110064600-110065200 | Active TSS | A549 | lung |
6 | chr8:110064600-110065400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr8:110065000-110077800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr8:110065200-110065400 | Flanking Active TSS | A549 | lung |
9 | chr8:110065400-110066400 | Enhancers | A549 | lung |
10 | chr8:110066400-110067600 | Weak transcription | A549 | lung |
11 | chr8:110067600-110067800 | Enhancers | A549 | lung |