Variant report

Variant	nsv961689
Chromosome Location	chr2:50654619-50658155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534661315	chr2:50654620-50654621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76270751	chr2:50654674-50654675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11885804	chr2:50654677-50654678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546587195	chr2:50654702-50654703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184100163	chr2:50654706-50654707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554646586	chr2:50654721-50654722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575995219	chr2:50654739-50654740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188628331	chr2:50654784-50654785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565209732	chr2:50654799-50654800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181075332	chr2:50654812-50654813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541245460	chr2:50654814-50654815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11125305	chr2:50654831-50654832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537226914	chr2:50654837-50654838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370886227	chr2:50654875-50654876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12473243	chr2:50654877-50654878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555500333	chr2:50654882-50654883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561416057	chr2:50654927-50654928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577057232	chr2:50654928-50654929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531623565	chr2:50654952-50654953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549736623	chr2:50655014-50655015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571622381	chr2:50655017-50655018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532625391	chr2:50655102-50655103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547974350	chr2:50655103-50655104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566190321	chr2:50655111-50655112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536843400	chr2:50655126-50655127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575436792	chr2:50655151-50655152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554404426	chr2:50655153-50655154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73934110	chr2:50655158-50655159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528548145	chr2:50655160-50655161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558555960	chr2:50655164-50655165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547047901	chr2:50655177-50655178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12619946	chr2:50655182-50655183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541381559	chr2:50655210-50655211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370575021	chr2:50655243-50655244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115336916	chr2:50655244-50655245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541986308	chr2:50655248-50655249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185400052	chr2:50655371-50655372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190606073	chr2:50655412-50655413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148295670	chr2:50655418-50655419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564890468	chr2:50655443-50655444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12620045	chr2:50655461-50655462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115954748	chr2:50655477-50655478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181697404	chr2:50655532-50655533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187432883	chr2:50655585-50655586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548737943	chr2:50655594-50655595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569784489	chr2:50655630-50655631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191801778	chr2:50655648-50655649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75183712	chr2:50655671-50655672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570501602	chr2:50655801-50655802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141484549	chr2:50655854-50655855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50654200-50657400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:50657200-50657600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:50657400-50658200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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