Variant report

Variant	nsv976969
Chromosome Location	chr15:100091459-100092273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:100089296..100091795-chr15:100092716..100095470,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561056085	chr15:100091477-100091478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531267787	chr15:100091552-100091553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550006593	chr15:100091574-100091575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555322183	chr15:100091598-100091599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537871306	chr15:100091606-100091607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538553367	chr15:100091635-100091636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139915452	chr15:100091636-100091637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553983764	chr15:100091648-100091649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190202318	chr15:100091705-100091706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566213223	chr15:100091782-100091783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182378476	chr15:100091800-100091801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375166484	chr15:100091801-100091802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554625156	chr15:100091828-100091829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79205786	chr15:100091835-100091836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12594611	chr15:100091851-100091852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556438722	chr15:100091865-100091866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577898342	chr15:100091912-100091913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545005467	chr15:100091968-100091969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111272375	chr15:100091996-100091997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35450515	chr15:100092008-100092009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12592314	chr15:100092022-100092023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12592787	chr15:100092025-100092026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531342423	chr15:100092027-100092028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187627956	chr15:100092047-100092048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565162852	chr15:100092055-100092056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532761919	chr15:100092059-100092060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371389149	chr15:100092078-100092079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574295062	chr15:100092136-100092137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547639575	chr15:100092137-100092138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543210284	chr15:100092150-100092151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192697094	chr15:100092171-100092172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561332142	chr15:100092183-100092184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28535609	chr15:100092187-100092188	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576786536	chr15:100092208-100092209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377053443	chr15:100092230-100092231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74033725	chr15:100092243-100092244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570055905	chr15:100092270-100092271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100088600-100105000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:100091600-100092600	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:100091800-100092600	Enhancers	Primary B cells from cord blood	blood

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