Variant report

Variant	nsv819361
Chromosome Location	chr6:70856578-70857212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70852110..70854164-chr6:70856762..70858414,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 88 )

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	rs147151431	chr6:70856585-70856586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369750536	chr6:70856598-70856599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142351542	chr6:70856609-70856610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143277262	chr6:70856610-70856611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533003114	chr6:70856626-70856627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200086490	chr6:70856628-70856629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566237040	chr6:70856634-70856635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74352237	chr6:70856657-70856658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75208940	chr6:70856658-70856659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373282018	chr6:70856730-70856731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140296027	chr6:70856731-70856732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34707673	chr6:70856738-70856739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530659797	chr6:70856740-70856741	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144153454	chr6:70856743-70856744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147852988	chr6:70856747-70856748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148894182	chr6:70856761-70856762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185185087	chr6:70856768-70856769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148336750	chr6:70856798-70856799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375358018	chr6:70856815-70856816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190164965	chr6:70856818-70856819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577468618	chr6:70856853-70856854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140544583	chr6:70856872-70856873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35249577	chr6:70856889-70856890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553471232	chr6:70856909-70856910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13212280	chr6:70856910-70856911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573399085	chr6:70856912-70856913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542693273	chr6:70856922-70856923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138415265	chr6:70856985-70856986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143031692	chr6:70856998-70856999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146157418	chr6:70857000-70857001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564041084	chr6:70857005-70857006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10214833	chr6:70857008-70857009	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546404366	chr6:70857061-70857062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367543963	chr6:70857066-70857067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137874916	chr6:70857076-70857077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142382589	chr6:70857129-70857130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549096447	chr6:70857155-70857156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73746875	chr6:70857181-70857182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537851937	chr6:70857197-70857198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550953017	chr6:70857209-70857210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70842400-70875200	Weak transcription	GM12878-XiMat	blood
2	chr6:70847600-70874800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70849200-70860600	Weak transcription	Psoas Muscle	Psoas
4	chr6:70851800-70858200	Strong transcription	Primary B cells from cord blood	blood
5	chr6:70856200-70899400	Weak transcription	Left Ventricle	heart

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