Variant report

Variant	nsv524386
Chromosome Location	chr20:15759361-15760969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135509	chr20:15759361-15759362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558158328	chr20:15759404-15759405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576826413	chr20:15759407-15759408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576542559	chr20:15759440-15759441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555686332	chr20:15759451-15759452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566257718	chr20:15759463-15759464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150485460	chr20:15759479-15759480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6110780	chr20:15759516-15759517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538981998	chr20:15759550-15759551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186875401	chr20:15759551-15759552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545411469	chr20:15759560-15759561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112255047	chr20:15759590-15759591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531509501	chr20:15759651-15759652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538365771	chr20:15759709-15759710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33952091	chr20:15759717-15759718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146224785	chr20:15759743-15759744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397864658	chr20:15759744-15759745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62194716	chr20:15759769-15759770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529117832	chr20:15759789-15759790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143885266	chr20:15759849-15759850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191335518	chr20:15759876-15759877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77175193	chr20:15759903-15759904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146327876	chr20:15759906-15759907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs207477425	chr20:15759915-15759916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557419002	chr20:15759945-15759946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537048262	chr20:15759993-15759994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573969800	chr20:15759999-15760000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556065268	chr20:15760092-15760093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574235836	chr20:15760107-15760108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570624163	chr20:15760111-15760112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377343973	chr20:15760154-15760155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34864112	chr20:15760210-15760211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535241874	chr20:15760216-15760217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553116898	chr20:15760225-15760226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571816918	chr20:15760267-15760268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545444500	chr20:15760280-15760281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563833605	chr20:15760307-15760308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569268833	chr20:15760313-15760314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6034287	chr20:15760316-15760317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576027159	chr20:15760360-15760361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6135510	chr20:15760436-15760437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553411024	chr20:15760453-15760454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562040359	chr20:15760491-15760492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116434538	chr20:15760498-15760499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539762352	chr20:15760561-15760562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372742320	chr20:15760562-15760563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573347669	chr20:15760563-15760564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185684098	chr20:15760569-15760570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189009414	chr20:15760584-15760585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192991142	chr20:15760590-15760591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15757800-15759600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr20:15758200-15768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:15759600-15760400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:15760400-15765800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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