Variant report

Variant	nsv584010
Chromosome Location	chr2:186205189-186245653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs850880	chr2:186205189-186205190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189904637	chr2:186205283-186205284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534073881	chr2:186205292-186205293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538154248	chr2:186205329-186205330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182130330	chr2:186205375-186205376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142642411	chr2:186205399-186205400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188402832	chr2:186205400-186205401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556347554	chr2:186205494-186205495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192736943	chr2:186205506-186205507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72904785	chr2:186205528-186205529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553871289	chr2:186205559-186205560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184793994	chr2:186205653-186205654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542897216	chr2:186205672-186205673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188398383	chr2:186205698-186205699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556172313	chr2:186205699-186205700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144782776	chr2:186205720-186205721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72904786	chr2:186205724-186205725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561377283	chr2:186205731-186205732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532873896	chr2:186205732-186205733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192002144	chr2:186205769-186205770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566456654	chr2:186205826-186205827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527320997	chr2:186205830-186205831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185081430	chr2:186205845-186205846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201207577	chr2:186205930-186205931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189448098	chr2:186205940-186205941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76291637	chr2:186205946-186205947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538146835	chr2:186205975-186205976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180963028	chr2:186205976-186205977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540763187	chr2:186206000-186206001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184248452	chr2:186206014-186206015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs850881	chr2:186206027-186206028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554274661	chr2:186206046-186206047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369500556	chr2:186206050-186206051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs850882	chr2:186206092-186206093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147927717	chr2:186206135-186206136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576286771	chr2:186206163-186206164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544134651	chr2:186206350-186206351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs850883	chr2:186206370-186206371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs850884	chr2:186206392-186206393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544763925	chr2:186206431-186206432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562999835	chr2:186206435-186206436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564969867	chr2:186206483-186206484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189308319	chr2:186206526-186206527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181350267	chr2:186206538-186206539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs850885	chr2:186206558-186206559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186304281	chr2:186206578-186206579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190532590	chr2:186206611-186206612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531499245	chr2:186206643-186206644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551703981	chr2:186206685-186206686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566949967	chr2:186206697-186206698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186203600-186207400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186236800-186237200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:186236800-186237800	Enhancers	Adipose Nuclei	Adipose
4	chr2:186237200-186237600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:186237200-186237600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:186237600-186238000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:186237600-186238600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:186238000-186238200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:186239200-186239400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:186241200-186241400	Enhancers	Pancreas	Pancrea
11	chr2:186241200-186242000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:186242000-186242200	Enhancers	Pancreas	Pancrea

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