Variant report

Variant	nsv978471
Chromosome Location	chr17:15740863-15742666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397843308	chr17:15740884-15740885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117029364	chr17:15740886-15740887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142755717	chr17:15740890-15740891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557462614	chr17:15740900-15740901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2787037	chr17:15740906-15740907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573928105	chr17:15740907-15740908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2787038	chr17:15740912-15740913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553288159	chr17:15740940-15740941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573168045	chr17:15741005-15741006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs505984	chr17:15741013-15741014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73978543	chr17:15741017-15741018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530045866	chr17:15741021-15741022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543627257	chr17:15741038-15741039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563353118	chr17:15741052-15741053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs581763	chr17:15741081-15741082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397843309	chr17:15741147-15741148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551995297	chr17:15741152-15741153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565806844	chr17:15741180-15741181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs689324	chr17:15741182-15741183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150697353	chr17:15741205-15741206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140168639	chr17:15741230-15741231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568397296	chr17:15741252-15741253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4054232	chr17:15741253-15741254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112206524	chr17:15741298-15741299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537360592	chr17:15741315-15741316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557505501	chr17:15741364-15741365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34607755	chr17:15741374-15741375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187650209	chr17:15741422-15741423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35490501	chr17:15741423-15741424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs677925	chr17:15741465-15741466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553184873	chr17:15741471-15741472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35540029	chr17:15741550-15741551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573423631	chr17:15741569-15741570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2741997	chr17:15741609-15741610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12325871	chr17:15741651-15741652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573438476	chr17:15741657-15741658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146858166	chr17:15741670-15741671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35577763	chr17:15741694-15741695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574751586	chr17:15741697-15741698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543355800	chr17:15741726-15741727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563455887	chr17:15741752-15741753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35876871	chr17:15741779-15741780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191016050	chr17:15741789-15741790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546024343	chr17:15741820-15741821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140659179	chr17:15741864-15741865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182759244	chr17:15741869-15741870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547746624	chr17:15741888-15741889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187459770	chr17:15741926-15741927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531065971	chr17:15742002-15742003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35656986	chr17:15742013-15742014	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15740800-15742400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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