Variant report

Variant	esv3489704
Chromosome Location	chr3:159256308-159258706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149239986	chr3:159256338-159256339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373416449	chr3:159256426-159256427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546514625	chr3:159256475-159256476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200798864	chr3:159256476-159256477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528494473	chr3:159256545-159256546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147311052	chr3:159256586-159256587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140625712	chr3:159256597-159256598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115769751	chr3:159256636-159256637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561718829	chr3:159256650-159256651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114135921	chr3:159256679-159256680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550757033	chr3:159256689-159256690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16830439	chr3:159256708-159256709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539435983	chr3:159256734-159256735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532981199	chr3:159256753-159256754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551684274	chr3:159256758-159256759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1489909	chr3:159256780-159256781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534049152	chr3:159256792-159256793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555420851	chr3:159256818-159256819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116203545	chr3:159256822-159256823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369379307	chr3:159256850-159256851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372889507	chr3:159256855-159256856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537954027	chr3:159256907-159256908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76897343	chr3:159256985-159256986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16847208	chr3:159256987-159256988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546058005	chr3:159256988-159256989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114286384	chr3:159256989-159256990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144625224	chr3:159258241-159258242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549346440	chr3:159258272-159258273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561004755	chr3:159258277-159258278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531372424	chr3:159258313-159258314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377454062	chr3:159258319-159258320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1387693	chr3:159258371-159258372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189468515	chr3:159258397-159258398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553095423	chr3:159258418-159258419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs425269	chr3:159258502-159258503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538355453	chr3:159258556-159258557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192382957	chr3:159258557-159258558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566770281	chr3:159258613-159258614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139380051	chr3:159258655-159258656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144097877	chr3:159258690-159258691	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	chr3:159253600-159257000	Enhancers	Liver	Liver
2	chr3:159255800-159256600	Enhancers	Rectal Smooth Muscle	rectum
3	chr3:159258200-159259400	Enhancers	Fetal Brain Male	brain

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