Variant report

Variant	rs12148781
Chromosome Location	chr15:56899523-56899524
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]
rs1031985	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518858	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11071278	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11071282	1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs11071283	1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs11634704	0.93[EUR][1000 genomes]
rs12148474	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439116	1.00[YRI][hapmap]
rs12441674	0.93[CEU][hapmap]
rs12898886	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13329689	0.86[EUR][1000 genomes]
rs1482066	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1600830	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2128172	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2128174	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2128175	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2128176	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2128177	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733230	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28374324	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28379958	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28409651	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28441487	0.86[EUR][1000 genomes]
rs28494774	0.82[EUR][1000 genomes]
rs28516854	0.87[EUR][1000 genomes]
rs28678122	1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs28778716	0.87[EUR][1000 genomes]
rs28782544	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28805712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28813195	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28830569	0.86[EUR][1000 genomes]
rs28842489	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28893316	0.87[EUR][1000 genomes]
rs4238320	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4456442	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774870	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4774876	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774877	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774879	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4774881	0.90[EUR][1000 genomes]
rs56327619	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7165804	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72744954	0.87[EUR][1000 genomes]
rs8026706	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8031549	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032893	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8034366	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9806469	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9920264	0.85[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1041239	chr15:56888945-56959028	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12148781	PYGO1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56896400-56900200	Weak transcription	HSMMtube	muscle
2	chr15:56898400-56900200	Enhancers	Dnd41	blood
3	chr15:56898400-56902200	Enhancers	Primary B cells from cord blood	blood
4	chr15:56898600-56899800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:56898800-56899600	Weak transcription	Fetal Thymus	thymus
6	chr15:56899200-56899600	Enhancers	GM12878-XiMat	blood

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