Variant report

Variant	nsv527588
Chromosome Location	chr14:84041290-84046560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17118861	chr14:84043000-84043001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374964720	chr14:84043006-84043007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551117159	chr14:84043045-84043046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189893500	chr14:84043053-84043054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111529937	chr14:84043065-84043066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140683134	chr14:84043069-84043070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114978675	chr14:84043075-84043076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373350328	chr14:84043076-84043077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576976678	chr14:84043077-84043078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541047295	chr14:84043087-84043088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561792695	chr14:84043095-84043096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74789868	chr14:84043097-84043098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149776436	chr14:84043104-84043105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74068731	chr14:84043122-84043123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71456288	chr14:84043141-84043142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72693415	chr14:84043142-84043143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546336640	chr14:84043162-84043163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528528915	chr14:84043180-84043181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145727339	chr14:84043181-84043182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528538500	chr14:84043189-84043190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149106244	chr14:84043190-84043191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34407813	chr14:84043202-84043203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568098253	chr14:84043217-84043218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529979551	chr14:84043226-84043227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548187079	chr14:84043230-84043231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373477467	chr14:84043250-84043251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569886252	chr14:84043257-84043258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182276168	chr14:84043276-84043277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558688476	chr14:84043295-84043296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187342159	chr14:84043344-84043345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537584030	chr14:84043353-84043354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191710069	chr14:84043354-84043355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143210075	chr14:84043396-84043397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574482779	chr14:84043397-84043398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374078998	chr14:84043401-84043402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557378845	chr14:84043436-84043437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151193893	chr14:84043476-84043477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183804790	chr14:84043480-84043481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546103729	chr14:84043514-84043515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79581222	chr14:84043526-84043527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111811297	chr14:84043536-84043537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528598233	chr14:84043570-84043571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540322733	chr14:84043587-84043588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561796383	chr14:84043622-84043623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188442101	chr14:84043646-84043647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541470927	chr14:84043739-84043740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145301560	chr14:84043740-84043741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193053833	chr14:84043753-84043754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137943590	chr14:84043786-84043787	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84043000-84043800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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