Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs152778	0.99[ASN][1000 genomes]
rs153306	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153310	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs250716	1.00[ASN][1000 genomes]
rs250717	0.99[ASN][1000 genomes]
rs250719	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250720	0.92[ASN][1000 genomes]
rs250723	0.88[ASN][1000 genomes]
rs250730	0.87[ASN][1000 genomes]
rs250731	0.84[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs250739	0.97[ASN][1000 genomes]
rs250741	0.96[ASN][1000 genomes]
rs250742	0.95[ASN][1000 genomes]
rs250743	0.86[ASN][1000 genomes]
rs250744	0.95[ASN][1000 genomes]
rs250745	0.95[ASN][1000 genomes]
rs250746	0.95[ASN][1000 genomes]
rs250747	0.94[ASN][1000 genomes]
rs250748	0.95[ASN][1000 genomes]
rs250750	0.94[ASN][1000 genomes]
rs250751	0.94[ASN][1000 genomes]
rs250752	0.94[ASN][1000 genomes]
rs253072	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs253073	0.84[ASN][1000 genomes]
rs37250	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs457606	0.88[ASN][1000 genomes]
rs705402	0.97[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs193943	F2RL1	cis	parietal	SCAN
rs193943	DMGDH	cis	cerebellum	SCAN
rs193943	LHFPL2	cis	cerebellum	SCAN

Chromatin state (count:5 , 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
4	chr5:76049800-76051000	Enhancers	A549	lung
5	chr5:76049800-76051400	Enhancers	HepG2	liver

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