Variant report

Variant	esv3338177
Chromosome Location	chr2:51734298-51736496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:51734625-51735863	IMR90	lung:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
2	CEBPB	chr2:51734659-51734923	A549	lung:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
3	CEBPB	chr2:51734641-51734960	HepG2	liver:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797
4	FOS	chr2:51735022-51735236	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
5	FOS	chr2:51734673-51735620	HUVEC	blood vessel:	n/a	chr2:51735077-51735086
6	FOS	chr2:51735035-51735312	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
7	FOS	chr2:51735014-51735214	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735086
8	JUN	chr2:51734961-51735624	HUVEC	blood vessel:	n/a	chr2:51735077-51735086
9	MAFK	chr2:51736154-51736339	IMR90	lung:	n/a	chr2:51736283-51736299 chr2:51736284-51736295 chr2:51736283-51736294 chr2:51736283-51736298 chr2:51736283-51736294
10	MAFK	chr2:51736163-51736386	HepG2	liver:	n/a	chr2:51736283-51736299 chr2:51736284-51736295 chr2:51736283-51736294 chr2:51736283-51736298 chr2:51736283-51736294
11	MAFK	chr2:51736163-51736392	HepG2	liver:	n/a	chr2:51736283-51736299 chr2:51736284-51736295 chr2:51736283-51736294 chr2:51736283-51736298 chr2:51736283-51736294
12	POLR2A	chr2:51734605-51734792	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr2:51734560-51735046	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr2:51734560-51735035	H1-neurons	neurons:	n/a	n/a
15	POU5F1	chr2:51734176-51734412	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr2:51735066-51735233	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735085
17	STAT3	chr2:51735012-51735317	MCF10A-Er-Src	breast:	n/a	chr2:51735077-51735085

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51733860-51734854..2:51736485-51737129	GM12878	blood:
2	2:51733860-51734854..2:51736485-51737129	GM12878	blood:
3	2:51664217-51674289..2:51733860-51734854	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
KNOP1P3	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141686343	chr2:51734300-51734301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565475651	chr2:51734301-51734302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs28958290	chr2:51734317-51734318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183520665	chr2:51734348-51734349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62143041	chr2:51734353-51734354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567916181	chr2:51734375-51734376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538180912	chr2:51734381-51734382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556672876	chr2:51734390-51734391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571882140	chr2:51734410-51734411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188599325	chr2:51734412-51734413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543354131	chr2:51734573-51734574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28958292	chr2:51734587-51734588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187072981	chr2:51734589-51734590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28958293	chr2:51734603-51734604	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189986952	chr2:51734623-51734624	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377343160	chr2:51734637-51734638	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182572240	chr2:51734639-51734640	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1528804	chr2:51734676-51734677	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138946511	chr2:51734680-51734681	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7603619	chr2:51734686-51734687	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs28958294	chr2:51734752-51734753	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572020507	chr2:51734765-51734766	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550656732	chr2:51734786-51734787	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377176398	chr2:51734835-51734836	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539215508	chr2:51734877-51734878	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs7564790	chr2:51734924-51734925	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186472391	chr2:51734964-51734965	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536367469	chr2:51734975-51734976	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143901421	chr2:51735051-51735052	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567870277	chr2:51735056-51735057	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529102118	chr2:51735072-51735073	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs1919424	chr2:51735079-51735080	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558425387	chr2:51735128-51735129	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576755209	chr2:51735131-51735132	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs68052961	chr2:51735133-51735134	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550843085	chr2:51735134-51735135	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1919426	chr2:51735138-51735139	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546591549	chr2:51735147-51735148	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529695818	chr2:51735183-51735184	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566740077	chr2:51735208-51735209	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541570892	chr2:51735230-51735231	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201544037	chr2:51735238-51735239	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs13415393	chr2:51735239-51735240	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs185180249	chr2:51735244-51735245	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191560929	chr2:51735263-51735264	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs563439043	chr2:51735277-51735278	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs182897736	chr2:51735291-51735292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530424584	chr2:51735327-51735328	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs188819118	chr2:51735344-51735345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565564625	chr2:51735368-51735369	Enhancers	TF binding region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51734600-51735800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:51734600-51736000	Enhancers	HUVEC	blood vessel
3	chr2:51734600-51736000	Enhancers	NH-A	brain
4	chr2:51734600-51736000	Enhancers	Osteobl	bone
5	chr2:51735000-51735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:51735600-51740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:51736000-51737400	Weak transcription	HUVEC	blood vessel

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