Variant report
Variant | nsv823760 |
---|---|
Chromosome Location | chr6:81299581-81304386 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs540888430 | chr6:81299593-81299594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs375875918 | chr6:81299596-81299597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs150968939 | chr6:81299599-81299600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs377415190 | chr6:81299601-81299602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs140777363 | chr6:81299714-81299715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs529206239 | chr6:81299742-81299743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs568916047 | chr6:81299749-81299750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs531411389 | chr6:81299789-81299790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs548014509 | chr6:81299945-81299946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs185961084 | chr6:81299962-81299963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs544528602 | chr6:81299999-81300000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533768907 | chr6:81300000-81300001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs553985714 | chr6:81300028-81300029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs570423861 | chr6:81300051-81300052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs539390940 | chr6:81300144-81300145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113119766 | chr6:81300199-81300200 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs575264031 | chr6:81300225-81300226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs544680781 | chr6:81300240-81300241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs554783543 | chr6:81300251-81300252 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs574950096 | chr6:81300259-81300260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs190840462 | chr6:81300305-81300306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs560706795 | chr6:81300310-81300311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs532849575 | chr6:81300311-81300312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs546545883 | chr6:81300317-81300318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs557169548 | chr6:81300319-81300320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs562451592 | chr6:81300346-81300347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs183894502 | chr6:81300428-81300429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs138884623 | chr6:81300429-81300430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs561630871 | chr6:81300510-81300511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs527441339 | chr6:81300511-81300512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs187188336 | chr6:81300512-81300513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190618485 | chr6:81300535-81300536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs183159589 | chr6:81300576-81300577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs72903988 | chr6:81300588-81300589 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs541861441 | chr6:81300594-81300595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs2168105 | chr6:81300640-81300641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs79145766 | chr6:81300663-81300664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs555003321 | chr6:81300803-81300804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs574825035 | chr6:81300856-81300857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs117780313 | chr6:81300869-81300870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs141875721 | chr6:81300935-81300936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs577545102 | chr6:81300937-81300938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs187087728 | chr6:81300999-81301000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs563195635 | chr6:81301012-81301013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs575946406 | chr6:81301046-81301047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs11963283 | chr6:81301058-81301059 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs561765002 | chr6:81301062-81301063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs147107294 | chr6:81301063-81301064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs374371325 | chr6:81301102-81301103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs563924315 | chr6:81301115-81301116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | 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 |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 22495311 | CNVD |
Gastric cancer | 17908304 | 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 |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 17603634 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Developmental delay | 21147756 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Lung cancer | 16773561 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Prostate cancer | 16461572 | CNVD |
Mental retardation | 21045960 | CNVD |
Obesity | 21045960 | CNVD |
learning difficulties | 21045960 | CNVD |
Prostate cancer | 17245344 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Cancer | 20164920 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Tetralogy of Fallot | 22912587 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:81294800-81317000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr6:81301600-81303000 | Enhancers | Fetal Lung | lung |
3 | chr6:81302200-81302600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
4 | chr6:81304200-81304800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |