Variant report

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

rs_ID	r²[population]
rs10092783	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104593	0.91[AMR][1000 genomes]
rs12678545	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144736	0.92[AMR][1000 genomes]
rs4144737	0.81[AMR][1000 genomes]
rs4144738	0.92[AMR][1000 genomes]
rs4335095	0.91[AMR][1000 genomes]
rs4345520	0.92[AMR][1000 genomes]
rs4425724	0.85[AMR][1000 genomes]
rs4527833	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4571702	0.91[AMR][1000 genomes]
rs4582526	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733557	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733727	0.85[AMR][1000 genomes]
rs4733728	0.85[AMR][1000 genomes]
rs4733729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733734	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4994386	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7004355	0.89[AMR][1000 genomes]
rs7341636	0.85[AMR][1000 genomes]
rs7388479	0.82[AMR][1000 genomes]
rs7816625	0.91[AMR][1000 genomes]
rs7828785	0.92[AMR][1000 genomes]
rs7846627	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs7822056	GSDMC	cis	Esophagus Mucosa	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130745800-130759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:130751600-130760200	Weak transcription	Esophagus	oesophagus
3	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:130755600-130764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:130758200-130765400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130758400-130763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:130759200-130765800	Strong transcription	NHEK	skin

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