Variant report

Variant	nsv829352
Chromosome Location	chr2:52264833-52265691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12470916	chr2:52264841-52264842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543705256	chr2:52264842-52264843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564809019	chr2:52264843-52264844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73930659	chr2:52264851-52264852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146376890	chr2:52264875-52264876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10199060	chr2:52264899-52264900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6719671	chr2:52264904-52264905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547916442	chr2:52264917-52264918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192841058	chr2:52264932-52264933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369975843	chr2:52264938-52264939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530377009	chr2:52265061-52265062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35538627	chr2:52265087-52265088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550514850	chr2:52265109-52265110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571957248	chr2:52265113-52265114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34185171	chr2:52265116-52265117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183032225	chr2:52265140-52265141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142850053	chr2:52265141-52265142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566083786	chr2:52265199-52265200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374445963	chr2:52265200-52265201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552950883	chr2:52265236-52265237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554720529	chr2:52265254-52265255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74945307	chr2:52265268-52265269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187676625	chr2:52265280-52265281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569442879	chr2:52265282-52265283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558456605	chr2:52265295-52265296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192301369	chr2:52265309-52265310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184641431	chr2:52265316-52265317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189258436	chr2:52265318-52265319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114779986	chr2:52265332-52265333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541910688	chr2:52265334-52265335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146131917	chr2:52265362-52265363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4971783	chr2:52265363-52265364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375479634	chr2:52265375-52265376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28394185	chr2:52265383-52265384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565628659	chr2:52265408-52265409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72884316	chr2:52265430-52265431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548071120	chr2:52265437-52265438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192612277	chr2:52265460-52265461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542378426	chr2:52265476-52265477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566267743	chr2:52265480-52265481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62140057	chr2:52265490-52265491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532700785	chr2:52265497-52265498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531216025	chr2:52265507-52265508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552660179	chr2:52265519-52265520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184242937	chr2:52265545-52265546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551395000	chr2:52265551-52265552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565173053	chr2:52265560-52265561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189002228	chr2:52265561-52265562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181126037	chr2:52265584-52265585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534611205	chr2:52265631-52265632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52249600-52266600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52261400-52265200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:52264400-52265600	Enhancers	H9 Cell Line	embryonic stem cell

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