Variant report

Variant	nsv526986
Chromosome Location	chr2:49275450-49279932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11125198	chr2:49275450-49275451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551474880	chr2:49275545-49275546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114600538	chr2:49275562-49275563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527290067	chr2:49275566-49275567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112789179	chr2:49275568-49275569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566921255	chr2:49275573-49275574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552333066	chr2:49275597-49275598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17038148	chr2:49275627-49275628	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs11898099	chr2:49275637-49275638	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571535233	chr2:49275656-49275657	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147881020	chr2:49275671-49275672	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554259968	chr2:49275703-49275704	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs35914737	chr2:49275716-49275717	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs572411235	chr2:49275719-49275720	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs564278640	chr2:49275725-49275726	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536745703	chr2:49275730-49275731	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537671769	chr2:49275767-49275768	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs374472761	chr2:49275776-49275777	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs555040669	chr2:49275822-49275823	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs77698912	chr2:49275834-49275835	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs372146840	chr2:49275856-49275857	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs13004879	chr2:49275862-49275863	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562744617	chr2:49275890-49275891	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114080523	chr2:49275969-49275970	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs141607013	chr2:49275974-49275975	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs568116723	chr2:49275986-49275987	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs560194678	chr2:49276043-49276044	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs527443064	chr2:49276070-49276071	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs566567930	chr2:49276098-49276099	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs549053866	chr2:49276126-49276127	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs190003050	chr2:49276146-49276147	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs531186066	chr2:49276149-49276150	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs552257790	chr2:49276183-49276184	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs570731084	chr2:49276205-49276206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550086253	chr2:49276216-49276217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533613222	chr2:49276234-49276235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3913665	chr2:49276242-49276243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs145454209	chr2:49276284-49276285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374170931	chr2:49276306-49276307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35052191	chr2:49276328-49276329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147718908	chr2:49276343-49276344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557973817	chr2:49276346-49276347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377425027	chr2:49276374-49276375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80156431	chr2:49279226-49279227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138010202	chr2:49279235-49279236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528246321	chr2:49279263-49279264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72827295	chr2:49279271-49279272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568121675	chr2:49279283-49279284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535446384	chr2:49279306-49279307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557044730	chr2:49279314-49279315	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bladder cancer	21909424	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49272400-49276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:49275600-49276200	Bivalent Enhancer	Fetal Intestine Large	intestine
3	chr2:49279200-49280400	Enhancers	Fetal Brain Male	brain

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