Variant report
Variant | esv3325964 |
---|---|
Chromosome Location | chr6:75501281-75535378 |
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 | rs577098861 | chr6:75510000-75510001 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs181687162 | chr6:75510020-75510021 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs184796744 | chr6:75510022-75510023 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs2095664 | chr6:75510029-75510030 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs377055268 | chr6:75510222-75510223 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs76655090 | chr6:75510250-75510251 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs149542184 | chr6:75510270-75510271 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs35859902 | chr6:75510291-75510292 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs111389108 | chr6:75510297-75510298 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs538953491 | chr6:75510305-75510306 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs555754305 | chr6:75510351-75510352 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs199761607 | chr6:75510384-75510385 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs143988085 | chr6:75510417-75510418 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs189528370 | chr6:75510430-75510431 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs140513226 | chr6:75510434-75510435 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs112076719 | chr6:75510444-75510445 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs371046848 | chr6:75510505-75510506 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs180706134 | chr6:75510563-75510564 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs185327776 | chr6:75510581-75510582 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs541119795 | chr6:75510594-75510595 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs191221715 | chr6:75510633-75510634 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs371992643 | chr6:75510699-75510700 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs74825474 | chr6:75510709-75510710 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs577780549 | chr6:75510722-75510723 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs545326996 | chr6:75510778-75510779 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs368201000 | chr6:75510851-75510852 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs563615708 | chr6:75510870-75510871 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs75227099 | chr6:75510927-75510928 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs181249533 | chr6:75511012-75511013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs143096134 | chr6:75511041-75511042 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs542204266 | chr6:75511077-75511078 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs34179553 | chr6:75511082-75511083 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
33 | rs528189937 | chr6:75511089-75511090 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs186716231 | chr6:75511115-75511116 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs76955686 | chr6:75511160-75511161 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs532327308 | chr6:75511177-75511178 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs191502442 | chr6:75511182-75511183 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs139846588 | chr6:75511190-75511191 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs536511144 | chr6:75511208-75511209 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs555735139 | chr6:75511250-75511251 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs367766902 | chr6:75511259-75511260 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs567523945 | chr6:75511311-75511312 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs535134803 | chr6:75511361-75511362 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs545369056 | chr6:75511437-75511438 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs149134878 | chr6:75511491-75511492 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs182928493 | chr6:75511523-75511524 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs577842533 | chr6:75511524-75511525 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs562763663 | chr6:75511552-75511553 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs142830459 | chr6:75511565-75511566 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs557269211 | chr6:75511604-75511605 | 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 |
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 |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Lung cancer | 18438408 | 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 |
Malignant fibrous histiocytomas | 21085701 | 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 |
Ovarian cancer | 17437010 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Glioma | 17123091 | CNVD |
Mental retardation | 17124404 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Developmental delay | 21147756 | CNVD |
Chronic lymphocytic leukemia | 21546498 | 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 |
Myelodysplastic syndrome | 18508791 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:75510000-75511600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr6:75511600-75514000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
3 | chr6:75515400-75515800 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr6:75515800-75516000 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
5 | chr6:75515800-75516200 | Active TSS | Ovary | ovary |
6 | chr6:75515800-75516400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
7 | chr6:75516000-75516200 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr6:75516000-75516400 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
9 | chr6:75516000-75516600 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
10 | chr6:75516000-75516600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr6:75516200-75516400 | Flanking Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
12 | chr6:75516200-75516600 | Enhancers | Ovary | ovary |
13 | chr6:75516400-75516600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
14 | chr6:75516600-75517600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
15 | chr6:75517600-75517800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
16 | chr6:75521400-75521800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
17 | chr6:75524400-75524600 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |