Variant report

Variant	nsv523962
Chromosome Location	chr16:80913946-80915229
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	chr16:80915029..80919258-chr16:80920866..80924672,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4889214	chr16:80913946-80913947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558919080	chr16:80913977-80913978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185681429	chr16:80913979-80913980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537553009	chr16:80914016-80914017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143580671	chr16:80914028-80914029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577207938	chr16:80914088-80914089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577435725	chr16:80914089-80914090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544868187	chr16:80914091-80914092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188435615	chr16:80914119-80914120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573130831	chr16:80914126-80914127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540668393	chr16:80914139-80914140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137891223	chr16:80914164-80914165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529343866	chr16:80914234-80914235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533633319	chr16:80914281-80914282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2580293	chr16:80914298-80914299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142325152	chr16:80914323-80914324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2549909	chr16:80914345-80914346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553857959	chr16:80914357-80914358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113542979	chr16:80914373-80914374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567200714	chr16:80914390-80914391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527281870	chr16:80914481-80914482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180821256	chr16:80914500-80914501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567152367	chr16:80914517-80914518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79735015	chr16:80914520-80914521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567265421	chr16:80914522-80914523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555856371	chr16:80914526-80914527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112020786	chr16:80914552-80914553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187314568	chr16:80914580-80914581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115047018	chr16:80914607-80914608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371272638	chr16:80914662-80914663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371464178	chr16:80914680-80914681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192370475	chr16:80914693-80914694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2549910	chr16:80914696-80914697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183683772	chr16:80914698-80914699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374113300	chr16:80914711-80914712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541706668	chr16:80914720-80914721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2580294	chr16:80914732-80914733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141544034	chr16:80914735-80914736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185885327	chr16:80914761-80914762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190496097	chr16:80914780-80914781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182681811	chr16:80914795-80914796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545658732	chr16:80914803-80914804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560531562	chr16:80914819-80914820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186956028	chr16:80914828-80914829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560777500	chr16:80914871-80914872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549432533	chr16:80914883-80914884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60296336	chr16:80914896-80914897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397941034	chr16:80914897-80914898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373867911	chr16:80914908-80914909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113035862	chr16:80914920-80914921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80910200-80916800	Weak transcription	Gastric	stomach

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