Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10092783	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10104593	0.92[AMR][1000 genomes]
rs12678545	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144736	0.91[AMR][1000 genomes]
rs4144737	0.80[AMR][1000 genomes]
rs4144738	0.91[AMR][1000 genomes]
rs4335095	0.92[AMR][1000 genomes]
rs4345520	0.91[AMR][1000 genomes]
rs4425724	0.86[AMR][1000 genomes]
rs4527833	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4571702	0.92[AMR][1000 genomes]
rs4582526	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733557	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733727	0.86[AMR][1000 genomes]
rs4733728	0.86[AMR][1000 genomes]
rs4733729	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4994386	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7004355	0.90[AMR][1000 genomes]
rs7341636	0.86[AMR][1000 genomes]
rs7388479	0.83[AMR][1000 genomes]
rs7816625	0.90[AMR][1000 genomes]
rs7822056	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828785	0.91[AMR][1000 genomes]
rs7846627	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4733734	GSDMC	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130744000-130754800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130745800-130754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:130745800-130759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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