Variant report

Variant	nsv522416
Chromosome Location	chr14:39356146-39358776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17108513	chr14:39356146-39356147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530446712	chr14:39356195-39356196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550501363	chr14:39356242-39356243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117397313	chr14:39356247-39356248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190671501	chr14:39356252-39356253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11625132	chr14:39356268-39356269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541228348	chr14:39356359-39356360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566649032	chr14:39356378-39356379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535156511	chr14:39356396-39356397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555115954	chr14:39356440-39356441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568521682	chr14:39356476-39356477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537060609	chr14:39356517-39356518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181580778	chr14:39356518-39356519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187208401	chr14:39356561-39356562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143160121	chr14:39356596-39356597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548467144	chr14:39356719-39356720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148272198	chr14:39356730-39356731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573119141	chr14:39356742-39356743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17108517	chr14:39356756-39356757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192040359	chr14:39356759-39356760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112170046	chr14:39356794-39356795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543909258	chr14:39356805-39356806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374198348	chr14:39356871-39356872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564181452	chr14:39356901-39356902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373392848	chr14:39356905-39356906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141383553	chr14:39356917-39356918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533102937	chr14:39356918-39356919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182763549	chr14:39356932-39356933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4899111	chr14:39356991-39356992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146263145	chr14:39357026-39357027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553370550	chr14:39357043-39357044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529121599	chr14:39357046-39357047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375855716	chr14:39357133-39357134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549160309	chr14:39357155-39357156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370673489	chr14:39357271-39357272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187683055	chr14:39357304-39357305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550726370	chr14:39357361-39357362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75989661	chr14:39357365-39357366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570519264	chr14:39357369-39357370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190221461	chr14:39357390-39357391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182816945	chr14:39357410-39357411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573155994	chr14:39357441-39357442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535660822	chr14:39357443-39357444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555529157	chr14:39357556-39357557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62001075	chr14:39357614-39357615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544273618	chr14:39357622-39357623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116389847	chr14:39357631-39357632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529389959	chr14:39357691-39357692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577580426	chr14:39357703-39357704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372444622	chr14:39357721-39357722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39350600-39369600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:39355000-39356600	Weak transcription	Brain Substantia Nigra	brain
3	chr14:39356600-39357200	Enhancers	Brain Substantia Nigra	brain
4	chr14:39356800-39357200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:39357000-39357200	Enhancers	Psoas Muscle	Psoas
6	chr14:39358000-39358600	Weak transcription	Left Ventricle	heart

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