Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10054780	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1035407	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1422443	0.88[ASN][1000 genomes]
rs1603409	0.80[ASN][1000 genomes]
rs173520	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189687	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012809	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2259002	0.85[JPT][hapmap]
rs247095	1.00[ASN][1000 genomes]
rs247097	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247100	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247180	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs247209	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2522382	0.85[JPT][hapmap]
rs2522384	0.85[JPT][hapmap]
rs2545018	0.85[JPT][hapmap]
rs2545019	0.85[JPT][hapmap]
rs2545023	0.85[JPT][hapmap]
rs2577469	0.85[JPT][hapmap]
rs4835959	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836402	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595859	0.93[EUR][1000 genomes];0.96[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	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs247099	SIX3	trans	lymphoblastoid	seeQTL
rs247099	ALDH7A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128093200-128098600	Weak transcription	Fetal Stomach	stomach

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