Variant report

Variant	esv3402541
Chromosome Location	chr20:16056352-16061450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201754028	chr20:16056403-16056404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550248114	chr20:16056422-16056423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372210329	chr20:16056429-16056430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574486465	chr20:16056447-16056448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563483295	chr20:16056471-16056472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376720688	chr20:16056526-16056527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369814712	chr20:16056541-16056542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541783395	chr20:16056581-16056582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188280082	chr20:16056602-16056603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529353751	chr20:16056645-16056646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191946123	chr20:16056691-16056692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546097580	chr20:16056699-16056700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564687972	chr20:16056713-16056714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112174940	chr20:16056732-16056733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150659097	chr20:16056757-16056758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6075001	chr20:16056766-16056767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529715331	chr20:16056790-16056791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6080114	chr20:16056836-16056837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566667104	chr20:16056853-16056854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369986839	chr20:16056871-16056872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6034375	chr20:16056900-16056901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370125394	chr20:16056901-16056902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1745931	chr20:16056902-16056903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75847576	chr20:16056906-16056907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6034376	chr20:16056907-16056908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71192318	chr20:16056926-16056927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112089825	chr20:16056952-16056953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113839470	chr20:16056956-16056957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570307621	chr20:16057022-16057023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184505701	chr20:16057046-16057047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547586978	chr20:16057138-16057139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189215646	chr20:16057213-16057214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79629501	chr20:16057239-16057240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181868563	chr20:16057345-16057346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185785183	chr20:16057351-16057352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1237495	chr20:16057410-16057411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75527999	chr20:16057423-16057424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571199551	chr20:16057433-16057434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147464102	chr20:16057439-16057440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139864768	chr20:16057570-16057571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376547305	chr20:16057629-16057630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375804940	chr20:16057637-16057638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189025244	chr20:16057669-16057670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145329502	chr20:16057698-16057699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527633416	chr20:16057707-16057708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145648889	chr20:16057734-16057735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398121214	chr20:16057738-16057739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78683651	chr20:16057739-16057740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537654372	chr20:16057786-16057787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549538633	chr20:16057789-16057790	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16052800-16057200	Weak transcription	Primary B cells from cord blood	blood
2	chr20:16053400-16057000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr20:16057000-16060400	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:16057200-16059000	Enhancers	Primary B cells from cord blood	blood
5	chr20:16058800-16059400	Enhancers	GM12878-XiMat	blood
6	chr20:16059000-16059400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr20:16059400-16061600	Enhancers	Primary B cells from cord blood	blood
8	chr20:16059400-16062000	Weak transcription	GM12878-XiMat	blood
9	chr20:16060400-16060800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr20:16060800-16065200	Enhancers	Primary B cells from peripheral blood	blood

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