Variant report

Variant	nsv974283
Chromosome Location	chr14:46997862-47005132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191934744	chr14:47004004-47004005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544176962	chr14:47004012-47004013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375877361	chr14:47004029-47004030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182210850	chr14:47004032-47004033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575888353	chr14:47004044-47004045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367660169	chr14:47004049-47004050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542902246	chr14:47004061-47004062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561575202	chr14:47004067-47004068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545723900	chr14:47004101-47004102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186795457	chr14:47004102-47004103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369995936	chr14:47004108-47004109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532686971	chr14:47004128-47004129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372148613	chr14:47004144-47004145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550944328	chr14:47004160-47004161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569202772	chr14:47004161-47004162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565231591	chr14:47004162-47004163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2642087	chr14:47004165-47004166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572981911	chr14:47004184-47004185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560130059	chr14:47004238-47004239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533713166	chr14:47004239-47004240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558361103	chr14:47004244-47004245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576517014	chr14:47004248-47004249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571347178	chr14:47004252-47004253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149781857	chr14:47004310-47004311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574310198	chr14:47004311-47004312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145698629	chr14:47004336-47004337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376935424	chr14:47004344-47004345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573605371	chr14:47004395-47004396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540814128	chr14:47004429-47004430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565518229	chr14:47004442-47004443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550390581	chr14:47004449-47004450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532636266	chr14:47004480-47004481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527682727	chr14:47004488-47004489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386777144	chr14:47004496-47004497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2123128	chr14:47004498-47004499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75376655	chr14:47004507-47004508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548200975	chr14:47004520-47004521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566408835	chr14:47004524-47004525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527616895	chr14:47004568-47004569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551947191	chr14:47004570-47004571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570263445	chr14:47004593-47004594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112122543	chr14:47004608-47004609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112550162	chr14:47004609-47004610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142315182	chr14:47004632-47004633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570163032	chr14:47004648-47004649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538099606	chr14:47004671-47004672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573568588	chr14:47004683-47004684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146125388	chr14:47004693-47004694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536107146	chr14:47004697-47004698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559296195	chr14:47004768-47004769	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47004000-47004600	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:47004400-47005000	Enhancers	Primary B cells from cord blood	blood

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