Variant report

Variant	nsv513091
Chromosome Location	chr3:159254887-159257753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552555320	chr3:159254909-159254910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145415239	chr3:159254930-159254931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146459569	chr3:159254946-159254947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546647761	chr3:159255079-159255080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115550982	chr3:159255093-159255094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111852049	chr3:159255150-159255151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140854102	chr3:159255159-159255160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575511502	chr3:159255175-159255176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186135936	chr3:159255184-159255185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144608072	chr3:159255206-159255207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572837918	chr3:159255274-159255275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115314901	chr3:159255308-159255309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190954562	chr3:159255389-159255390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575117015	chr3:159255461-159255462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117558766	chr3:159255471-159255472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61794727	chr3:159255666-159255667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116526048	chr3:159255690-159255691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552545788	chr3:159255773-159255774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183409666	chr3:159255780-159255781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530789357	chr3:159255832-159255833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61794728	chr3:159255857-159255858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187820695	chr3:159255858-159255859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568193179	chr3:159255879-159255880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535300899	chr3:159255880-159255881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116630763	chr3:159255912-159255913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190783460	chr3:159255918-159255919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1387692	chr3:159255920-159255921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182906751	chr3:159255928-159255929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539730836	chr3:159255956-159255957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547845602	chr3:159255997-159255998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5853868	chr3:159256038-159256039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398091932	chr3:159256044-159256045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201673824	chr3:159256046-159256047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561000657	chr3:159256099-159256100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575913305	chr3:159256101-159256102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117592911	chr3:159256201-159256202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138410249	chr3:159256224-159256225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533751512	chr3:159256240-159256241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555538622	chr3:159256248-159256249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187244912	chr3:159256262-159256263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543941569	chr3:159256276-159256277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369955732	chr3:159256295-159256296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557532114	chr3:159256298-159256299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149239986	chr3:159256338-159256339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373416449	chr3:159256426-159256427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546514625	chr3:159256475-159256476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200798864	chr3:159256476-159256477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528494473	chr3:159256545-159256546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147311052	chr3:159256586-159256587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140625712	chr3:159256597-159256598	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159253400-159256200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:159253600-159257000	Enhancers	Liver	Liver
3	chr3:159255800-159256600	Enhancers	Rectal Smooth Muscle	rectum

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