Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:30889421-30889611	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250624	TF binding region

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

rs_ID	r²[population]
rs10008068	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10010742	0.86[AFR][1000 genomes]
rs10010853	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13112641	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13122707	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13140818	0.88[ASN][1000 genomes]
rs16884201	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28489161	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28752062	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34059778	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34547954	0.91[ASN][1000 genomes]
rs34625421	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35235147	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35262065	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35554621	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61794533	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61794534	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61795887	0.91[EUR][1000 genomes]
rs6819579	0.85[EUR][1000 genomes]
rs71598132	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30870800-30903200	Weak transcription	Fetal Lung	lung
2	chr4:30879800-30893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:30883200-30899000	Weak transcription	Aorta	Aorta
4	chr4:30886600-30889600	Weak transcription	Fetal Heart	heart

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