Variant report

Variant	nsv521077
Chromosome Location	chr6:70214844-70279345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 280 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34439487	chr6:70224210-70224211	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201943026	chr6:70224211-70224212	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370630458	chr6:70224225-70224226	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368571863	chr6:70224254-70224255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs57566770	chr6:70224272-70224273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12206228	chr6:70224292-70224293	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564392792	chr6:70224327-70224328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575076056	chr6:70224341-70224342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577541093	chr6:70224387-70224388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532933613	chr6:70224391-70224392	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369219546	chr6:70224404-70224405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111388011	chr6:70224408-70224409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1743770	chr6:70224454-70224455	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs202215833	chr6:70224477-70224478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529034696	chr6:70224510-70224511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11756762	chr6:70224516-70224517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548810458	chr6:70224551-70224552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568600786	chr6:70224558-70224559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537264154	chr6:70224574-70224575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557205589	chr6:70224578-70224579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570839879	chr6:70224582-70224583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs539438034	chr6:70224597-70224598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188064524	chr6:70224608-70224609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560720544	chr6:70224633-70224634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144275518	chr6:70224652-70224653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527894624	chr6:70224686-70224687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190896318	chr6:70224691-70224692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182611083	chr6:70224695-70224696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113294029	chr6:70224711-70224712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544101683	chr6:70224719-70224720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs564359951	chr6:70224723-70224724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376009454	chr6:70224781-70224782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1768966	chr6:70224795-70224796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147378983	chr6:70224799-70224800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs139620411	chr6:70224812-70224813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187683011	chr6:70224864-70224865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192502000	chr6:70224870-70224871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145265332	chr6:70224882-70224883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12206486	chr6:70224911-70224912	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151008516	chr6:70224922-70224923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550802147	chr6:70224933-70224934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140903235	chr6:70225003-70225004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185066906	chr6:70225011-70225012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539697691	chr6:70225017-70225018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546898568	chr6:70225041-70225042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75487085	chr6:70225050-70225051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535500091	chr6:70225067-70225068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12529482	chr6:70225068-70225069	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112539006	chr6:70225090-70225091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538030917	chr6:70225102-70225103	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70224200-70225800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:70224400-70225800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:70224600-70225200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:70224600-70225400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:70224800-70225400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:70224800-70225400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:70234600-70234800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:70237800-70238600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:70249000-70249800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:70263200-70263600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:70263400-70263800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:70263400-70264000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:70263600-70264800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:70263600-70265000	Enhancers	HUES6 Cell Line	embryonic stem cell

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