Variant report

Variant	nsv518405
Chromosome Location	chr2:51898276-51899794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12105215	chr2:51898276-51898277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558829402	chr2:51898295-51898296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577606147	chr2:51898298-51898299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184276100	chr2:51898322-51898323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114110131	chr2:51898336-51898337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573216926	chr2:51898368-51898369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368696383	chr2:51898377-51898378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540400627	chr2:51898378-51898379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561949822	chr2:51898383-51898384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556037057	chr2:51898390-51898391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529309367	chr2:51898447-51898448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550838483	chr2:51898460-51898461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530321281	chr2:51898475-51898476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546839180	chr2:51898530-51898531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10164450	chr2:51898554-51898555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75636708	chr2:51898642-51898643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533202834	chr2:51898677-51898678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551640317	chr2:51898679-51898680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577501844	chr2:51898745-51898746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575907064	chr2:51898746-51898747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566736084	chr2:51898752-51898753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72888299	chr2:51898755-51898756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549150263	chr2:51898790-51898791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28961632	chr2:51898836-51898837	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537935744	chr2:51898972-51898973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72888301	chr2:51898987-51898988	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182133997	chr2:51899001-51899002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79132518	chr2:51899009-51899010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150464473	chr2:51899033-51899034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573155877	chr2:51899041-51899042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535264864	chr2:51899053-51899054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538397537	chr2:51899090-51899091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558500240	chr2:51899117-51899118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561938140	chr2:51899148-51899149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574201763	chr2:51899172-51899173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532088458	chr2:51899189-51899190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544674631	chr2:51899197-51899198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1516181	chr2:51899205-51899206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs35251903	chr2:51899214-51899215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12464410	chr2:51899229-51899230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186736216	chr2:51899281-51899282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201539991	chr2:51899325-51899326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370432373	chr2:51899328-51899329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560490641	chr2:51899337-51899338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200016328	chr2:51899341-51899342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527541421	chr2:51899383-51899384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72888302	chr2:51899440-51899441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572884454	chr2:51899525-51899526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567465738	chr2:51899588-51899589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531433692	chr2:51899594-51899595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51893000-51900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:51898600-51898800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:51898800-51899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:51899000-51899200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:51899000-51900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:51899000-51900800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:51899400-51900600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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