Variant report

Variant	rs12471839
Chromosome Location	chr2:113712489-113712490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10178396	0.91[ASN][1000 genomes]
rs10199311	0.90[ASN][1000 genomes]
rs10221977	0.91[ASN][1000 genomes]
rs10864908	0.92[ASN][1000 genomes]
rs11123151	0.86[AMR][1000 genomes]
rs11123153	0.92[ASN][1000 genomes]
rs11690185	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11690539	0.82[AMR][1000 genomes]
rs11690879	0.82[AMR][1000 genomes]
rs11696039	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11893071	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053091	0.82[AMR][1000 genomes]
rs12105482	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12464758	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12465526	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12466604	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12466653	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12466697	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12468164	0.92[ASN][1000 genomes]
rs12470439	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12472089	0.81[AMR][1000 genomes]
rs12477661	0.83[AMR][1000 genomes]
rs12479173	0.84[AMR][1000 genomes]
rs12614316	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12614988	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12617864	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12618418	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12621220	0.81[AMR][1000 genomes]
rs12623837	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12711745	0.90[ASN][1000 genomes]
rs12987491	0.82[ASN][1000 genomes]
rs12993351	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12995439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13021862	0.84[AMR][1000 genomes]
rs13026837	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1317913	0.84[AMR][1000 genomes]
rs2068777	0.90[ASN][1000 genomes]
rs2708931	0.98[ASN][1000 genomes]
rs2708932	0.82[ASN][1000 genomes]
rs2723163	0.90[ASN][1000 genomes]
rs34027384	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34899562	0.84[AMR][1000 genomes]
rs4077216	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4254516	0.91[ASN][1000 genomes]
rs4387792	0.89[ASN][1000 genomes]
rs4538207	0.90[ASN][1000 genomes]
rs4848309	0.89[ASN][1000 genomes]
rs58788639	0.83[AMR][1000 genomes]
rs66591921	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6705432	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6716380	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720230	0.83[AMR][1000 genomes]
rs6722962	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6723197	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6723582	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733001	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6733003	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6735589	0.85[ASN][1000 genomes]
rs6747618	0.92[ASN][1000 genomes]
rs67721272	0.82[AMR][1000 genomes]
rs67995749	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825577	0.81[AMR][1000 genomes]
rs7557537	0.90[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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113711000-113715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:113711200-113712600	Enhancers	HMEC	breast
3	chr2:113711400-113712600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113711400-113712600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:113711400-113712600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113711400-113712600	Enhancers	NHEK	skin

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