Variant report
Variant | nsv527394 |
---|---|
Chromosome Location | chr6:92061701-92067726 |
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 | rs9353824 | chr6:92061701-92061702 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs544542343 | chr6:92061748-92061749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs147120457 | chr6:92061749-92061750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs369726354 | chr6:92061790-92061791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs543959774 | chr6:92061808-92061809 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs564200433 | chr6:92061823-92061824 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs532956151 | chr6:92061843-92061844 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148155105 | chr6:92061853-92061854 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs540270425 | chr6:92061882-92061883 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs560197581 | chr6:92061889-92061890 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs529152615 | chr6:92061903-92061904 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549278480 | chr6:92061904-92061905 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs184419937 | chr6:92061932-92061933 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs189493755 | chr6:92061933-92061934 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs34029037 | chr6:92061962-92061963 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs551561125 | chr6:92061963-92061964 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs571448803 | chr6:92061966-92061967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs534038741 | chr6:92062041-92062042 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs553704236 | chr6:92062058-92062059 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs58565535 | chr6:92062130-92062131 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs536513726 | chr6:92062150-92062151 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs7768509 | chr6:92062172-92062173 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs576541166 | chr6:92062174-92062175 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs140719716 | chr6:92062190-92062191 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs192986601 | chr6:92062229-92062230 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs564342140 | chr6:92062239-92062240 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs577769879 | chr6:92062275-92062276 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540331655 | chr6:92062276-92062277 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs560160517 | chr6:92062281-92062282 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs184314652 | chr6:92062344-92062345 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs542542252 | chr6:92062365-92062366 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs562828198 | chr6:92062369-92062370 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs531401542 | chr6:92062391-92062392 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs532079160 | chr6:92062536-92062537 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs551122930 | chr6:92062577-92062578 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532655765 | chr6:92062578-92062579 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs6911257 | chr6:92062606-92062607 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs113199726 | chr6:92062635-92062636 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527753091 | chr6:92062674-92062675 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs547501314 | chr6:92062677-92062678 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs7749168 | chr6:92062706-92062707 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs569122606 | chr6:92062730-92062731 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs189646574 | chr6:92062757-92062758 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs370320177 | chr6:92062770-92062771 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs550206427 | chr6:92062781-92062782 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs112361358 | chr6:92062872-92062873 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs138555986 | chr6:92062916-92062917 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs141611839 | chr6:92062921-92062922 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs533835404 | chr6:92062939-92062940 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs562916067 | chr6:92062990-92062991 | Enhancers 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 |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Melanoma | 18172304 | 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 |
Prostate cancer | 18632612 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | 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 |
Lung adenocarcinoma | 21935476 | 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 |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 21364760 | CNVD |
Developmental delay | 19490664 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Adrenocortical carcinoma | 18281524 | CNVD |
small cell lung cancer | 20016488 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:92061400-92062800 | Enhancers | Fetal Lung | lung |
2 | chr6:92061600-92061800 | Enhancers | Fetal Stomach | stomach |
3 | chr6:92061800-92064200 | Weak transcription | Fetal Stomach | stomach |
4 | chr6:92062600-92063000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
5 | chr6:92064200-92065000 | Enhancers | Fetal Stomach | stomach |