Variant report

Variant	nsv875524
Chromosome Location	chr2:186206092-186239607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs850882	chr2:186206092-186206093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147927717	chr2:186206135-186206136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576286771	chr2:186206163-186206164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544134651	chr2:186206350-186206351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs850883	chr2:186206370-186206371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs850884	chr2:186206392-186206393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544763925	chr2:186206431-186206432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562999835	chr2:186206435-186206436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564969867	chr2:186206483-186206484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189308319	chr2:186206526-186206527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181350267	chr2:186206538-186206539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs850885	chr2:186206558-186206559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186304281	chr2:186206578-186206579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190532590	chr2:186206611-186206612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531499245	chr2:186206643-186206644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551703981	chr2:186206685-186206686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566949967	chr2:186206697-186206698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534399669	chr2:186206702-186206703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546255353	chr2:186206714-186206715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114881436	chr2:186206757-186206758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs850886	chr2:186206801-186206802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538792262	chr2:186206866-186206867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547210669	chr2:186206902-186206903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181550427	chr2:186206925-186206926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375048186	chr2:186206969-186206970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554531617	chr2:186206974-186206975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116485904	chr2:186207090-186207091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537320809	chr2:186207099-186207100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559239725	chr2:186207133-186207134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577485788	chr2:186207151-186207152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145851749	chr2:186207172-186207173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138549094	chr2:186207255-186207256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572131079	chr2:186207321-186207322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542784398	chr2:186207326-186207327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368730396	chr2:186207333-186207334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560865105	chr2:186207337-186207338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531366397	chr2:186207365-186207366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11687947	chr2:186207375-186207376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548816629	chr2:186236810-186236811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572698529	chr2:186236820-186236821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191742417	chr2:186236834-186236835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376970066	chr2:186236842-186236843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74726003	chr2:186236855-186236856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556005852	chr2:186236889-186236890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577550763	chr2:186236932-186236933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538426725	chr2:186236939-186236940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553595541	chr2:186236940-186236941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181839677	chr2:186236951-186236952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34831915	chr2:186236955-186236956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572539739	chr2:186236973-186236974	Enhancers	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:9 , 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	--

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