Variant report
Variant | nsv968524 |
---|---|
Chromosome Location | chr8:114977678-114984643 |
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 | rs1511701 | chr8:114977733-114977734 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs548136896 | chr8:114977789-114977790 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs529432692 | chr8:114977823-114977824 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181557735 | chr8:114977832-114977833 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs77098879 | chr8:114977850-114977851 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs558798842 | chr8:114977865-114977866 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs74404408 | chr8:114977871-114977872 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148879624 | chr8:114977892-114977893 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs554576632 | chr8:114977919-114977920 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs574484427 | chr8:114977932-114977933 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs185237308 | chr8:114977975-114977976 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs560348748 | chr8:114977998-114977999 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs10505210 | chr8:114978005-114978006 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs189738627 | chr8:114978071-114978072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs182349295 | chr8:114978148-114978149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs575485982 | chr8:114978192-114978193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs531464095 | chr8:114978205-114978206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs76262730 | chr8:114978262-114978263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561711006 | chr8:114978263-114978264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs28645382 | chr8:114978264-114978265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs571167759 | chr8:114978272-114978273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs527236508 | chr8:114978289-114978290 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs546984168 | chr8:114978292-114978293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs557315728 | chr8:114978357-114978358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs577258229 | chr8:114978371-114978372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs7835123 | chr8:114978390-114978391 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs553413248 | chr8:114978392-114978393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs532617474 | chr8:114978394-114978395 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs552382069 | chr8:114978422-114978423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs569091992 | chr8:114978436-114978437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs537988093 | chr8:114978472-114978473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs554641796 | chr8:114978486-114978487 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs568366535 | chr8:114978504-114978505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534156027 | chr8:114978569-114978570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs187730624 | chr8:114978570-114978571 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs577041215 | chr8:114978573-114978574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs367737452 | chr8:114978574-114978575 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs145527579 | chr8:114978587-114978588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs556432641 | chr8:114978596-114978597 | 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 |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | 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 |
Glioblastoma multiforme | 21080181 | 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 |
lymphocytic leukemia | 21291569 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Sezary syndrome | 18413736 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Breast cancer | 21364760 | CNVD |
Neuroticism | 17667963 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Schizophrenia | 20967226 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:114975800-114978000 | Weak transcription | Hela-S3 | cervix |
2 | chr8:114976800-114978400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr8:114978000-114978600 | Enhancers | Hela-S3 | cervix |