Variant report
Variant | esv3360779 |
---|---|
Chromosome Location | chr6:66156181-66158479 |
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 | rs190473137 | chr6:66156210-66156211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs116316240 | chr6:66156213-66156214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs568289855 | chr6:66156226-66156227 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs145609114 | chr6:66156229-66156230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs147747308 | chr6:66156230-66156231 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs115756809 | chr6:66156252-66156253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs192585962 | chr6:66156349-66156350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545891785 | chr6:66156415-66156416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs553094616 | chr6:66156442-66156443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs370995492 | chr6:66156475-66156476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs572887431 | chr6:66156502-66156503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs148760566 | chr6:66156504-66156505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs531035740 | chr6:66156523-66156524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs183575215 | chr6:66156546-66156547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs544750356 | chr6:66156645-66156646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs116670356 | chr6:66156664-66156665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs188259011 | chr6:66156678-66156679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs150019227 | chr6:66156712-66156713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs67497424 | chr6:66156713-66156714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs200875252 | chr6:66156715-66156716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs372878519 | chr6:66156716-66156717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs9363360 | chr6:66156724-66156725 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs552292607 | chr6:66156744-66156745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs145137632 | chr6:66156754-66156755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs71743128 | chr6:66156755-66156756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs145134290 | chr6:66156757-66156758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs374288303 | chr6:66156770-66156771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs528068451 | chr6:66156775-66156776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs12215670 | chr6:66156792-66156793 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs181170718 | chr6:66156804-66156805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs142416844 | chr6:66156812-66156813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs557272399 | chr6:66156843-66156844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs12196989 | chr6:66156877-66156878 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs12196990 | chr6:66156878-66156879 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs553029021 | chr6:66156880-66156881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs573023628 | chr6:66156896-66156897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs9345629 | chr6:66156901-66156902 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs185513589 | chr6:66156903-66156904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs12203182 | chr6:66156905-66156906 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs73445191 | chr6:66156927-66156928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs564809985 | chr6:66156942-66156943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs578203892 | chr6:66156948-66156949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs188757480 | chr6:66156980-66156981 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs559460586 | chr6:66157011-66157012 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs17768580 | chr6:66157042-66157043 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs181808582 | chr6:66157061-66157062 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs187252263 | chr6:66157076-66157077 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs9445549 | chr6:66157091-66157092 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs550588211 | chr6:66157097-66157098 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs191922000 | chr6:66157103-66157104 | Weak transcription Enhancers | 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 |
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 |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Oral squamous cell carcinoma | 17134496 | 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 |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 16573809 | CNVD |
Ovarian cancer | 19835627 | 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 |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Dyslexia | 22102821 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 20164919 | CNVD |
Retinitis pigmentosa | 21519034 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:66155800-66156400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr6:66156400-66158600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr6:66157000-66160800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
4 | chr6:66157400-66158200 | Enhancers | Brain Cingulate Gyrus | brain |
5 | chr6:66157400-66160600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
6 | chr6:66157600-66158200 | Enhancers | H9 Cell Line | embryonic stem cell |
7 | chr6:66157600-66158400 | Enhancers | Brain Substantia Nigra | brain |
8 | chr6:66157600-66160600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
9 | chr6:66157600-66160600 | Enhancers | Brain Hippocampus Middle | brain |
10 | chr6:66157800-66160400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
11 | chr6:66157800-66160600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
12 | chr6:66158000-66160800 | Enhancers | Fetal Brain Male | brain |
13 | chr6:66158200-66158400 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
14 | chr6:66158200-66160400 | Weak transcription | H9 Cell Line | embryonic stem cell |
15 | chr6:66158400-66158600 | Weak transcription | Brain Substantia Nigra | brain |