Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10000017	0.90[EUR][1000 genomes]
rs10003040	0.94[EUR][1000 genomes]
rs10011437	0.96[EUR][1000 genomes]
rs10025543	0.96[EUR][1000 genomes]
rs10026607	0.97[EUR][1000 genomes]
rs10027658	0.99[EUR][1000 genomes]
rs10030289	0.99[EUR][1000 genomes]
rs10516705	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10516706	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11731734	0.94[EUR][1000 genomes]
rs12651425	0.98[EUR][1000 genomes]
rs13115377	0.83[EUR][1000 genomes]
rs13126755	0.99[EUR][1000 genomes]
rs13130476	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13140768	0.99[EUR][1000 genomes]
rs1354655	0.88[AFR][1000 genomes]
rs1488657	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505786	0.98[EUR][1000 genomes]
rs1505792	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17007624	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1906578	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1906579	0.88[AFR][1000 genomes]
rs2009469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394381	0.99[EUR][1000 genomes]
rs28451242	0.94[EUR][1000 genomes]
rs28780983	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34196281	0.99[EUR][1000 genomes]
rs4524375	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5012041	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879513	chr4:84612373-84905452	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1846043	chr4:84792366-84829877	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1847823	COQ2	cis	lymphoblastoid	seeQTL
rs1847823	WDFY3	cis	parietal	SCAN
rs1847823	PLAC8	cis	lymphoblastoid	seeQTL
rs1847823	PTAFR	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84794400-84797200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:84795600-84797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:84796000-84797200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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