Variant report

Variant	nsv974358
Chromosome Location	chr14:83156960-83158588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562820045	chr14:83156972-83156973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533029979	chr14:83156976-83156977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8022199	chr14:83156997-83156998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566466747	chr14:83156999-83157000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533919834	chr14:83157023-83157024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113265317	chr14:83157038-83157039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8021930	chr14:83157060-83157061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537101847	chr14:83157165-83157166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556453388	chr14:83157249-83157250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555492246	chr14:83157264-83157265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369113198	chr14:83157351-83157352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538926468	chr14:83157352-83157353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372505298	chr14:83157354-83157355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115321866	chr14:83157396-83157397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148334770	chr14:83157543-83157544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542745680	chr14:83157590-83157591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190519322	chr14:83157592-83157593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180914513	chr14:83157597-83157598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544397175	chr14:83157674-83157675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562502749	chr14:83157700-83157701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533298498	chr14:83157718-83157719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573725473	chr14:83157726-83157727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560217983	chr14:83157727-83157728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564033981	chr14:83157752-83157753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548966318	chr14:83157882-83157883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372227223	chr14:83157892-83157893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531386930	chr14:83157919-83157920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567391675	chr14:83157924-83157925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531261358	chr14:83157932-83157933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143425644	chr14:83157979-83157980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72627202	chr14:83157981-83157982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34132615	chr14:83157982-83157983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140495125	chr14:83157999-83158000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539367583	chr14:83158064-83158065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114264999	chr14:83158080-83158081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565996006	chr14:83158084-83158085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150416115	chr14:83158118-83158119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534588645	chr14:83158152-83158153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554492861	chr14:83158154-83158155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576488991	chr14:83158194-83158195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543541641	chr14:83158250-83158251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200604021	chr14:83158282-83158283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386779349	chr14:83158402-83158403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147761382	chr14:83158412-83158413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1952827	chr14:83158468-83158469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142786268	chr14:83158474-83158475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186221730	chr14:83158494-83158495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527556542	chr14:83158502-83158503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542649069	chr14:83158509-83158510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544880002	chr14:83158511-83158512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Multiple myeloma	17550852	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
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83156600-83158800	Enhancers	NHEK	skin
2	chr14:83157200-83158000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:83157200-83158200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:83157400-83158000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:83157400-83158000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:83158000-83164400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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