Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs152778	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153306	0.91[ASN][1000 genomes]
rs153310	0.88[ASN][1000 genomes]
rs193943	0.99[ASN][1000 genomes]
rs250716	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250719	1.00[ASN][1000 genomes]
rs250720	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250723	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs250730	0.88[ASN][1000 genomes]
rs250731	0.88[ASN][1000 genomes]
rs250739	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250741	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs250742	0.97[ASN][1000 genomes]
rs250743	0.87[ASN][1000 genomes]
rs250744	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs250745	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs250746	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs250747	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs250748	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs250749	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs250750	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs250751	0.95[ASN][1000 genomes]
rs250752	0.95[ASN][1000 genomes]
rs253072	0.85[ASN][1000 genomes]
rs253073	0.85[ASN][1000 genomes]
rs37250	0.81[ASN][1000 genomes]
rs457606	0.89[ASN][1000 genomes]
rs705402	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs250717	F2R	cis	lung	GTEx
rs250717	F2R	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76047400-76052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:76047600-76050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:76047600-76050600	Weak transcription	NHEK	skin

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