Variant report

Variant	rs520075
Chromosome Location	chr11:58495334-58495335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501373	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896831	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896846	1.00[AMR][1000 genomes]
rs10896855	1.00[AMR][1000 genomes]
rs11229621	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11229624	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11229647	1.00[AMR][1000 genomes]
rs11229660	1.00[AMR][1000 genomes]
rs11229665	1.00[AMR][1000 genomes]
rs11229669	1.00[AMR][1000 genomes]
rs11229675	1.00[AMR][1000 genomes]
rs11229681	1.00[AMR][1000 genomes]
rs11229685	0.81[AMR][1000 genomes]
rs12365539	1.00[AMR][1000 genomes]
rs12576002	1.00[AMR][1000 genomes]
rs1893630	1.00[AMR][1000 genomes]
rs1938700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938706	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1938710	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1938712	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1938720	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938727	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943275	1.00[AMR][1000 genomes]
rs2156348	0.81[AMR][1000 genomes]
rs2212844	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2497369	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2507835	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34745169	0.90[AMR][1000 genomes]
rs4554906	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs494174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499891	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611013	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs615701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs520075	APOBEC3G	trans	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58492800-58495400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:58492800-58496800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:58493000-58498200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr11:58493200-58495400	Enhancers	Fetal Intestine Large	intestine
5	chr11:58493200-58496000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:58493400-58495400	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:58493400-58495600	Enhancers	K562	blood
8	chr11:58493600-58496800	Enhancers	Primary T cells from cord blood	blood
9	chr11:58493600-58497000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr11:58493800-58496000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr11:58493800-58496200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:58493800-58496800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:58494000-58495400	Enhancers	Fetal Intestine Small	intestine
14	chr11:58494200-58495400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:58494200-58495600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:58494200-58495600	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:58494400-58495400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr11:58494600-58495400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:58494600-58495400	Flanking Active TSS	Liver	Liver
20	chr11:58494800-58495400	Enhancers	Fetal Thymus	thymus
21	chr11:58494800-58495400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:58494800-58496800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:58495000-58495400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:58495000-58496000	Weak transcription	Fetal Kidney	kidney
25	chr11:58495200-58495800	Enhancers	Adipose Nuclei	Adipose
26	chr11:58495200-58496800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:58495200-58497600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:58495200-58499400	Weak transcription	HepG2	liver

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