Variant report

Variant	rs2109530
Chromosome Location	chr12:42281550-42281551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1027464	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1027465	0.92[EUR][1000 genomes]
rs10467186	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10785304	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785305	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10785306	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10785308	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880173	0.81[AMR][1000 genomes]
rs10880177	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11181200	0.80[EUR][1000 genomes]
rs11181202	0.80[EUR][1000 genomes]
rs11181203	0.80[EUR][1000 genomes]
rs11181220	0.83[EUR][1000 genomes]
rs12366405	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391001	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391003	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391005	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1391006	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1472403	0.80[EUR][1000 genomes]
rs1860603	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2079901	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2079902	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2079903	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2109529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159586	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2406452	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768376	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295842	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7298484	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7298622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308989	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7308995	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7314269	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7314286	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734384	0.80[EUR][1000 genomes]
rs961859	0.83[EUR][1000 genomes]
rs984644	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899046	chr12:42271300-42291928	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42274000-42288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:42277000-42286200	Weak transcription	Primary hematopoietic stem cells	blood

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