Variant report
Variant | esv3400742 |
---|---|
Chromosome Location | chr6:64068993-64073191 |
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 | rs545148135 | chr6:64069008-64069009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs553689327 | chr6:64069010-64069011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs200739887 | chr6:64069011-64069012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs561400340 | chr6:64069012-64069013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs542960133 | chr6:64069050-64069051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs536515519 | chr6:64069071-64069072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs180739277 | chr6:64069089-64069090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs531365249 | chr6:64069118-64069119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs1741784 | chr6:64069132-64069133 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs185003216 | chr6:64069133-64069134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs116145572 | chr6:64069154-64069155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs151257553 | chr6:64069163-64069164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs566743440 | chr6:64069166-64069167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs189579261 | chr6:64069167-64069168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs182043715 | chr6:64069174-64069175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs187146074 | chr6:64069197-64069198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs537895484 | chr6:64069217-64069218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs556292940 | chr6:64069222-64069223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs571668916 | chr6:64069224-64069225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs61630315 | chr6:64069237-64069238 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs373434021 | chr6:64069250-64069251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs553896325 | chr6:64069252-64069253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs572303007 | chr6:64069264-64069265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs528532866 | chr6:64069311-64069312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs542919125 | chr6:64069346-64069347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs189986843 | chr6:64069359-64069360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs1779762 | chr6:64069416-64069417 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs1779761 | chr6:64069425-64069426 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs547004179 | chr6:64069499-64069500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs181391328 | chr6:64069530-64069531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs532206705 | chr6:64069532-64069533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201873081 | chr6:64069536-64069537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs185295550 | chr6:64069546-64069547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs189763372 | chr6:64069547-64069548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs2753069 | chr6:64069557-64069558 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs182107212 | chr6:64069559-64069560 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs561206500 | chr6:64069566-64069567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs531913904 | chr6:64069569-64069570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs184985641 | chr6:64069610-64069611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs111709996 | chr6:64069632-64069633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs571564901 | chr6:64069643-64069644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs7757686 | chr6:64069651-64069652 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs7758841 | chr6:64069674-64069675 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs565874889 | chr6:64069690-64069691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs1711897 | chr6:64069702-64069703 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs542523703 | chr6:64069705-64069706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs376189740 | chr6:64069722-64069723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192436660 | chr6:64069757-64069758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs576360889 | chr6:64069792-64069793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs536969643 | chr6:64069823-64069824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
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 |
Autism | 22495311 | CNVD |
Endometrioid adenocarcinoma | 16974079 | 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 |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Cancer | 21637783 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Lung cancer | 18438408 | 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 |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Cancer | 20164920 | CNVD |
Prostate cancer | 16573809 | CNVD |
Ovarian cancer | 19835627 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cancer | 21183584 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:64040400-64071200 | Weak transcription | Placenta | Placenta |
2 | chr6:64062600-64071200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr6:64066000-64071400 | Weak transcription | A549 | lung |
4 | chr6:64066000-64071600 | Weak transcription | HepG2 | liver |
5 | chr6:64071200-64072000 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
6 | chr6:64071400-64072400 | ZNF genes & repeats | A549 | lung |
7 | chr6:64071600-64072400 | ZNF genes & repeats | HepG2 | liver |
8 | chr6:64071800-64072000 | Weak transcription | Placenta | Placenta |
9 | chr6:64072000-64072600 | Strong transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
10 | chr6:64072400-64072800 | Weak transcription | HepG2 | liver |
11 | chr6:64072400-64078200 | Weak transcription | A549 | lung |
12 | chr6:64072600-64081400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
13 | chr6:64072800-64073200 | Enhancers | HepG2 | liver |