Variant report

Variant	nsv511197
Chromosome Location	chr3:159252752-159257961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140789236	chr3:159252835-159252836	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs576930984	chr3:159252856-159252857	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs541011362	chr3:159252869-159252870	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs34532017	chr3:159252952-159252953	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs184845296	chr3:159252963-159252964	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs529667185	chr3:159252977-159252978	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs114378217	chr3:159253008-159253009	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562908770	chr3:159253075-159253076	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs144622394	chr3:159253085-159253086	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs573039357	chr3:159253092-159253093	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552202791	chr3:159253124-159253125	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571756636	chr3:159253128-159253129	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs545327230	chr3:159253144-159253145	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548155393	chr3:159253148-159253149	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs566362482	chr3:159253237-159253238	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs374635480	chr3:159253262-159253263	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs145687002	chr3:159253277-159253278	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569989586	chr3:159253392-159253393	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537160069	chr3:159253403-159253404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368742417	chr3:159253437-159253438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559003193	chr3:159253509-159253510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577013885	chr3:159253533-159253534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189328983	chr3:159253541-159253542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148505606	chr3:159253631-159253632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555882482	chr3:159253633-159253634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569611505	chr3:159253660-159253661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574406291	chr3:159253695-159253696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541691465	chr3:159253723-159253724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562947492	chr3:159253758-159253759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530483017	chr3:159253772-159253773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202139900	chr3:159253779-159253780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545620667	chr3:159253780-159253781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115792364	chr3:159253840-159253841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181668509	chr3:159253918-159253919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548026414	chr3:159253949-159253950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574173098	chr3:159253970-159253971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566250355	chr3:159253995-159253996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61794726	chr3:159254014-159254015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112729037	chr3:159254027-159254028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185896515	chr3:159254073-159254074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112946057	chr3:159254100-159254101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375791196	chr3:159254175-159254176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142245166	chr3:159254213-159254214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558815080	chr3:159254233-159254234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544641987	chr3:159254236-159254237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570905736	chr3:159254304-159254305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534757048	chr3:159254350-159254351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79775078	chr3:159254365-159254366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs727234	chr3:159254385-159254386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs369168293	chr3:159254390-159254391	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159252800-159253400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:159253400-159256200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:159253600-159257000	Enhancers	Liver	Liver
4	chr3:159255800-159256600	Enhancers	Rectal Smooth Muscle	rectum

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