Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130732259..130735444-chr8:130737069..130741081,4	K562	blood:
2	chr8:130593091..130595640-chr8:130733142..130736387,3	K562	blood:

Variant related genes	Relation type
ENSG00000224110	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10092783	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10104593	0.81[AMR][1000 genomes]
rs12678545	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144736	0.80[AMR][1000 genomes]
rs4144738	0.80[AMR][1000 genomes]
rs4335095	0.81[AMR][1000 genomes]
rs4345520	0.80[AMR][1000 genomes]
rs4425724	0.86[AMR][1000 genomes]
rs4527833	0.81[EUR][1000 genomes]
rs4571702	0.81[AMR][1000 genomes]
rs4582526	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733727	0.86[AMR][1000 genomes]
rs4733728	0.86[AMR][1000 genomes]
rs4733729	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733734	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4994386	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7004355	0.83[AMR][1000 genomes]
rs7341636	0.86[AMR][1000 genomes]
rs7822056	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828785	0.80[AMR][1000 genomes]
rs7846627	0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4733557	GSDMC	cis	Esophagus Mucosa	GTEx
rs4733557	GSDMC	cis	Muscle Skeletal	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130723200-130734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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