Variant report

Variant	nsv517094
Chromosome Location	chr14:63061920-63063997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10151267	chr14:63061920-63061921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535151058	chr14:63061940-63061941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377219215	chr14:63061981-63061982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1686779	chr14:63061996-63061997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1686778	chr14:63062025-63062026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532472215	chr14:63062031-63062032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74058606	chr14:63062035-63062036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565879617	chr14:63062046-63062047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186762056	chr14:63062063-63062064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555061576	chr14:63062090-63062091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56052726	chr14:63062100-63062101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193072070	chr14:63062113-63062114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1686777	chr14:63062123-63062124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568089137	chr14:63062211-63062212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112520758	chr14:63062214-63062215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536632234	chr14:63062223-63062224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556552612	chr14:63062224-63062225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74752898	chr14:63062244-63062245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539746803	chr14:63062267-63062268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1686776	chr14:63062295-63062296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139965662	chr14:63062301-63062302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58701850	chr14:63062377-63062378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs57485031	chr14:63062395-63062396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537436792	chr14:63062404-63062405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116234753	chr14:63062424-63062425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544591451	chr14:63062483-63062484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557772293	chr14:63062492-63062493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185750392	chr14:63062538-63062539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532409911	chr14:63062553-63062554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200449134	chr14:63062561-63062562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58720911	chr14:63062564-63062565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397767221	chr14:63062571-63062572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78554856	chr14:63062572-63062573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546477625	chr14:63062598-63062599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559431742	chr14:63062646-63062647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55671186	chr14:63062663-63062664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141577547	chr14:63062690-63062691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202057338	chr14:63062699-63062700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55683677	chr14:63062703-63062704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189884158	chr14:63062741-63062742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550112921	chr14:63062768-63062769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570121694	chr14:63062771-63062772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8006837	chr14:63062790-63062791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146182761	chr14:63062823-63062824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573493590	chr14:63062831-63062832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536013991	chr14:63062834-63062835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376282383	chr14:63062839-63062840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139048496	chr14:63062842-63062843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74058607	chr14:63062859-63062860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373851051	chr14:63062897-63062898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63060200-63063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63063400-63063600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63063600-63064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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