Variant report
Variant | nsv523311 |
---|---|
Chromosome Location | chr8:85026929-85032004 |
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 | rs73288182 | chr8:85030811-85030812 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs544245246 | chr8:85030857-85030858 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs532324335 | chr8:85030862-85030863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs552132381 | chr8:85030894-85030895 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs117676413 | chr8:85031024-85031025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs142713273 | chr8:85031031-85031032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs563831986 | chr8:85031110-85031111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs374297248 | chr8:85031154-85031155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145058524 | chr8:85031272-85031273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs536252552 | chr8:85031282-85031283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs568951805 | chr8:85031299-85031300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs71522945 | chr8:85031307-85031308 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs546851668 | chr8:85031330-85031331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs567094023 | chr8:85031382-85031383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539221006 | chr8:85031397-85031398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs570361110 | chr8:85031404-85031405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs539036809 | chr8:85031414-85031415 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs575282936 | chr8:85031423-85031424 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs537906649 | chr8:85031447-85031448 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs73288184 | chr8:85031459-85031460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs574444692 | chr8:85031470-85031471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs371643544 | chr8:85031490-85031491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs560391738 | chr8:85031516-85031517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs34619236 | chr8:85031518-85031519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs532998131 | chr8:85031525-85031526 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs141269538 | chr8:85031552-85031553 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs531422401 | chr8:85031587-85031588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs544256093 | chr8:85031588-85031589 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs16912464 | chr8:85031628-85031629 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs530028749 | chr8:85031636-85031637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs370790597 | chr8:85031651-85031652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs376238525 | chr8:85031670-85031671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs534784555 | chr8:85031676-85031677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs150765581 | chr8:85031685-85031686 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs373898945 | chr8:85031764-85031765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs139218300 | chr8:85031769-85031770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs532728332 | chr8:85031836-85031837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190965272 | chr8:85031888-85031889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs368033406 | chr8:85031922-85031923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs552851242 | chr8:85031932-85031933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs569305890 | chr8:85031936-85031937 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs181819620 | chr8:85031943-85031944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs575756979 | chr8:85031944-85031945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs375650568 | chr8:85031949-85031950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs10808857 | chr8:85032004-85032005 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
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 |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Autism | 22495311 | 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 |
Acute lymphoblastic leukemia | 22237106 | 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 |
Esophageal cancer | 20955586 | CNVD |
Multiple myeloma | 16461302 | 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 |
Glioblastoma multiforme | 18628472 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Cancer | 21949371 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute myeloid leukemia | 21358987 | 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 |
Acute lymphoblastic leukemia | 18458336 | CNVD |
small cell lung cancer | 20016488 | 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 |
Bladder cancer | 19088036 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Epilepsy | 20502679 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Autism | 20841430 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:85030800-85031600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
2 | chr8:85030800-85032200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr8:85031000-85031400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr8:85032000-85033200 | Enhancers | HUES64 Cell Line | embryonic stem cell |