Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1429447	0.83[ASN][1000 genomes]
rs169228	0.86[ASN][1000 genomes]
rs199782	0.86[ASN][1000 genomes]
rs199792	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200359	0.93[ASN][1000 genomes]
rs200364	0.86[ASN][1000 genomes]
rs200365	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200367	0.86[ASN][1000 genomes]
rs200368	0.83[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs200370	0.86[ASN][1000 genomes]
rs200371	0.86[ASN][1000 genomes]
rs383250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs427808	0.86[ASN][1000 genomes]
rs6137590	0.81[ASN][1000 genomes]
rs6137596	0.86[ASN][1000 genomes]
rs6137611	1.00[YRI][hapmap]
rs709009	0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs804691	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs804692	0.86[ASN][1000 genomes]
rs804693	0.86[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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv962639	chr20:22254826-22283685	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs199783	NAPB	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22276400-22277800	Enhancers	Esophagus	oesophagus
2	chr20:22276600-22278400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:22276600-22278600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:22276600-22278600	Enhancers	NHEK	skin

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