Variant report

Variant	nsv826935
Chromosome Location	chr14:43712653-43715995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140023712	chr14:43714411-43714412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558283323	chr14:43714415-43714416	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576673251	chr14:43714461-43714462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564304920	chr14:43714500-43714501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs149849420	chr14:43714503-43714504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562476081	chr14:43714521-43714522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187684930	chr14:43714566-43714567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145735191	chr14:43714593-43714594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190793630	chr14:43714629-43714630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199822451	chr14:43714630-43714631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200393197	chr14:43714632-43714633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201672046	chr14:43714633-43714634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75156119	chr14:43714634-43714635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs71284792	chr14:43714635-43714636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62001166	chr14:43714637-43714638	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552909800	chr14:43714673-43714674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546730420	chr14:43714701-43714702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564668999	chr14:43714715-43714716	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531983170	chr14:43714733-43714734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs148509597	chr14:43714737-43714738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4508347	chr14:43714739-43714740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs373523551	chr14:43714754-43714755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568489656	chr14:43714767-43714768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144181874	chr14:43714798-43714799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535967549	chr14:43714799-43714800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547431860	chr14:43714840-43714841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116687199	chr14:43714842-43714843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533078923	chr14:43714854-43714855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550202238	chr14:43714859-43714860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370268701	chr14:43714889-43714890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558462346	chr14:43714903-43714904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576609004	chr14:43714904-43714905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187238681	chr14:43714919-43714920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556343477	chr14:43714996-43714997	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43714400-43715000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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