Variant report
Variant | esv3416688 |
---|---|
Chromosome Location | chr20:16239452-16241950 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:16241933..16245769-chr20:16247318..16250085,3 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs546303528 | chr20:16239460-16239461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs117194910 | chr20:16239465-16239466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs200421199 | chr20:16239514-16239515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs200265294 | chr20:16239566-16239567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs538777688 | chr20:16239568-16239569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs201539706 | chr20:16239569-16239570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs116443243 | chr20:16239608-16239609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs201355586 | chr20:16239609-16239610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs572390941 | chr20:16239630-16239631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs199674383 | chr20:16239648-16239649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs113356804 | chr20:16239660-16239661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs112000645 | chr20:16239664-16239665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs78095690 | chr20:16239683-16239684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs113428893 | chr20:16239693-16239694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs74210816 | chr20:16239700-16239701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs368126260 | chr20:16239718-16239719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs199626110 | chr20:16239722-16239723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs199871725 | chr20:16239725-16239726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs112192831 | chr20:16239728-16239729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs555228228 | chr20:16239731-16239732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs200585103 | chr20:16239747-16239748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs201590153 | chr20:16239748-16239749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs191535246 | chr20:16239759-16239760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs71192326 | chr20:16239768-16239769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs575098389 | chr20:16239779-16239780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573487371 | chr20:16239795-16239796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs190365767 | chr20:16239799-16239800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs200581643 | chr20:16239801-16239802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs544061437 | chr20:16239809-16239810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs183397176 | chr20:16239811-16239812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs200649240 | chr20:16239822-16239823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201973687 | chr20:16239824-16239825 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs11477262 | chr20:16239829-16239830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs200088156 | chr20:16239832-16239833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs554457827 | chr20:16239837-16239838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs576888719 | chr20:16239846-16239847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs113853006 | chr20:16239850-16239851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs373121040 | chr20:16239855-16239856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs111887861 | chr20:16239871-16239872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs375592366 | chr20:16239872-16239873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs139746957 | chr20:16239896-16239897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs116269305 | chr20:16239908-16239909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs561210968 | chr20:16239932-16239933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs528420938 | chr20:16239937-16239938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs546563638 | chr20:16239972-16239973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs564883124 | chr20:16240031-16240032 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs117604000 | chr20:16240046-16240047 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs73898449 | chr20:16240066-16240067 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs142812455 | chr20:16240074-16240075 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs73898450 | chr20:16240118-16240119 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:16238400-16240200 | Weak transcription | Gastric | stomach |
2 | chr20:16239600-16240000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr20:16239800-16240200 | Weak transcription | Spleen | Spleen |
4 | chr20:16240000-16240400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr20:16240000-16240400 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
6 | chr20:16240200-16240400 | Enhancers | Spleen | Spleen |
7 | chr20:16240200-16240600 | ZNF genes & repeats | Gastric | stomach |
8 | chr20:16240200-16242800 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
9 | chr20:16240400-16243400 | Weak transcription | Spleen | Spleen |
10 | chr20:16240600-16246200 | Weak transcription | Gastric | stomach |
11 | chr20:16241200-16242200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
12 | chr20:16241400-16242800 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
13 | chr20:16241400-16243800 | Enhancers | K562 | blood |