Variant report

Variant	rs12320743
Chromosome Location	chr12:62216253-62216254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11174121	1.00[EUR][1000 genomes]
rs11174135	1.00[EUR][1000 genomes]
rs11174151	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs11174155	0.92[YRI][hapmap]
rs11174156	1.00[EUR][1000 genomes]
rs11174167	1.00[EUR][1000 genomes]
rs11174170	1.00[EUR][1000 genomes]
rs11174171	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11174178	1.00[EUR][1000 genomes]
rs11174179	1.00[EUR][1000 genomes]
rs11174206	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12296389	1.00[YRI][hapmap]
rs12301609	1.00[EUR][1000 genomes]
rs12301651	1.00[EUR][1000 genomes]
rs12302070	1.00[EUR][1000 genomes]
rs12302650	1.00[EUR][1000 genomes]
rs12305869	1.00[EUR][1000 genomes]
rs12306721	1.00[EUR][1000 genomes]
rs12307176	1.00[EUR][1000 genomes]
rs12307906	1.00[EUR][1000 genomes]
rs12308834	1.00[EUR][1000 genomes]
rs12310261	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs12310815	1.00[EUR][1000 genomes]
rs12310971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311143	1.00[EUR][1000 genomes]
rs12312418	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12313373	0.86[YRI][hapmap]
rs12313937	1.00[EUR][1000 genomes]
rs12314551	1.00[EUR][1000 genomes]
rs12316239	1.00[EUR][1000 genomes]
rs12318519	1.00[YRI][hapmap]
rs12318562	1.00[YRI][hapmap]
rs12318619	1.00[YRI][hapmap]
rs12318980	1.00[YRI][hapmap]
rs12319647	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs12319917	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12320238	1.00[EUR][1000 genomes]
rs12320387	1.00[EUR][1000 genomes]
rs12320922	0.86[YRI][hapmap]
rs12322039	1.00[EUR][1000 genomes]
rs2359976	1.00[EUR][1000 genomes]
rs7137620	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7294889	1.00[EUR][1000 genomes]
rs7297714	1.00[EUR][1000 genomes]
rs7299621	1.00[EUR][1000 genomes]
rs7301639	1.00[EUR][1000 genomes]
rs7314886	1.00[EUR][1000 genomes]
rs7980919	1.00[EUR][1000 genomes]
rs9651985	1.00[EUR][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	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv899151	chr12:62108648-62227606	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12320743	PFKFB1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62215200-62216400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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