Variant report

Variant	nsv520389
Chromosome Location	chr14:84142036-84151681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536535391	chr14:84144401-84144402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184692926	chr14:84144425-84144426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138475329	chr14:84144459-84144460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544298610	chr14:84144501-84144502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374623715	chr14:84144562-84144563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143110367	chr14:84144568-84144569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190027604	chr14:84144584-84144585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150655278	chr14:84144592-84144593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1241902	chr14:84144639-84144640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529699028	chr14:84144643-84144644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571475614	chr14:84144668-84144669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1241901	chr14:84144679-84144680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553928216	chr14:84144685-84144686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551147384	chr14:84144737-84144738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572319355	chr14:84144739-84144740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534123123	chr14:84144741-84144742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542887007	chr14:84144745-84144746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7159727	chr14:84144752-84144753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537874885	chr14:84144756-84144757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55732921	chr14:84144757-84144758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397824088	chr14:84144770-84144771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575909341	chr14:84144795-84144796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543400252	chr14:84144828-84144829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564774750	chr14:84144865-84144866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115488464	chr14:84144939-84144940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193090925	chr14:84144956-84144957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55774644	chr14:84144964-84144965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537272122	chr14:84144975-84144976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538710941	chr14:84145228-84145229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11159602	chr14:84145278-84145279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540498076	chr14:84145283-84145284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1241900	chr14:84145288-84145289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565890350	chr14:84145314-84145315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74923952	chr14:84145321-84145322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554908418	chr14:84145373-84145374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189384924	chr14:84145451-84145452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7142195	chr14:84145457-84145458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543788203	chr14:84145469-84145470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181000599	chr14:84145480-84145481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557015629	chr14:84145533-84145534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139891961	chr14:84145544-84145545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185381943	chr14:84145591-84145592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538770480	chr14:84145598-84145599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73359625	chr14:84145662-84145663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144744378	chr14:84145664-84145665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542042164	chr14:84145681-84145682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544036803	chr14:84145721-84145722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563365282	chr14:84145761-84145762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148541342	chr14:84145776-84145777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375065709	chr14:84145828-84145829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84144400-84145000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:84145200-84147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:84147200-84147400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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