Variant report

Variant	nsv457796
Chromosome Location	chr2:52053891-52065417
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	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
2	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:

Extended variants
information (count: 553 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6707783	chr2:52053891-52053892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546197342	chr2:52053894-52053895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532005959	chr2:52053945-52053946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11563104	chr2:52053948-52053949	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528970751	chr2:52053954-52053955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1347496	chr2:52053963-52053964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534158899	chr2:52053964-52053965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549132375	chr2:52053971-52053972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140396172	chr2:52053980-52053981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1347497	chr2:52053981-52053982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs2164392	chr2:52054001-52054002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28966400	chr2:52054010-52054011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182633876	chr2:52054021-52054022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11673773	chr2:52054036-52054037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114634350	chr2:52054050-52054051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75516127	chr2:52054059-52054060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138334359	chr2:52054066-52054067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542857602	chr2:52054085-52054086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371086642	chr2:52054108-52054109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561020332	chr2:52054189-52054190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534029885	chr2:52054191-52054192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576216593	chr2:52054227-52054228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563496648	chr2:52054230-52054231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543547176	chr2:52054245-52054246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532970998	chr2:52054248-52054249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546805823	chr2:52054252-52054253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554232238	chr2:52054280-52054281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2354984	chr2:52054284-52054285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529407434	chr2:52054293-52054294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532162823	chr2:52054298-52054299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187760644	chr2:52054310-52054311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549073427	chr2:52054313-52054314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560430914	chr2:52054318-52054319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192765918	chr2:52054335-52054336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11563017	chr2:52054378-52054379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs988517	chr2:52054415-52054416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531802683	chr2:52054422-52054423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28966401	chr2:52054423-52054424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368920118	chr2:52054431-52054432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs988518	chr2:52054432-52054433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571642969	chr2:52054453-52054454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs988519	chr2:52054491-52054492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142340021	chr2:52054495-52054496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566000389	chr2:52054499-52054500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146601329	chr2:52054525-52054526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554896843	chr2:52054550-52054551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139122067	chr2:52054572-52054573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28966402	chr2:52054609-52054610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs367943115	chr2:52054619-52054620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576831421	chr2:52054646-52054647	Weak transcription Enhancers	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52051800-52054000	Enhancers	Hela-S3	cervix
2	chr2:52053400-52054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:52053800-52054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:52054200-52055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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