Variant report

Variant	nsv1052095
Chromosome Location	chr14:46410888-46438901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181114139	chr14:46415231-46415232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185209897	chr14:46415246-46415247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549625715	chr14:46415249-46415250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115053855	chr14:46415271-46415272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569316465	chr14:46415274-46415275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386777089	chr14:46415276-46415277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112973560	chr14:46415277-46415278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530300850	chr14:46415299-46415300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59864844	chr14:46415327-46415328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367621294	chr14:46415336-46415337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534224164	chr14:46415352-46415353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558636090	chr14:46415386-46415387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531751244	chr14:46415430-46415431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537926532	chr14:46415449-46415450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539928189	chr14:46415546-46415547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553154209	chr14:46415579-46415580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12586599	chr14:46415612-46415613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545299645	chr14:46415695-46415696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570208432	chr14:46415707-46415708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535253058	chr14:46415726-46415727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535696568	chr14:46415753-46415754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572000556	chr14:46415782-46415783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370470572	chr14:46415826-46415827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563881269	chr14:46415837-46415838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552678073	chr14:46415851-46415852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17727939	chr14:46415877-46415878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75560893	chr14:46415883-46415884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188224686	chr14:46415897-46415898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs176670	chr14:46415933-46415934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114559978	chr14:46415988-46415989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563276155	chr14:46416000-46416001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527939728	chr14:46416028-46416029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180749133	chr14:46416063-46416064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570724990	chr14:46416069-46416070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557821499	chr14:46416077-46416078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187412624	chr14:46416119-46416120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115013155	chr14:46416139-46416140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568212811	chr14:46416171-46416172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200822865	chr14:46416180-46416181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77187358	chr14:46416188-46416189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148566562	chr14:46416202-46416203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572012998	chr14:46416208-46416209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35333898	chr14:46416212-46416213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539318159	chr14:46416252-46416253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535404116	chr14:46416262-46416263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142907474	chr14:46416263-46416264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555587413	chr14:46416272-46416273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114024125	chr14:46416361-46416362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543402507	chr14:46416455-46416456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116850514	chr14:46416488-46416489	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
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46415200-46416800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:46421000-46421600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:46433200-46433600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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