Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75563549..75565834-chr1:75566534..75569201,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1007512	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10493552	0.93[ASN][1000 genomes]
rs10493553	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11162201	0.83[EUR][1000 genomes]
rs11162250	0.87[EUR][1000 genomes]
rs11162302	0.88[EUR][1000 genomes]
rs11162315	0.88[EUR][1000 genomes]
rs11162360	0.92[EUR][1000 genomes]
rs11162513	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162567	0.80[ASN][1000 genomes]
rs12021751	0.88[EUR][1000 genomes]
rs12036667	0.92[ASN][1000 genomes]
rs12041465	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12563445	0.93[ASN][1000 genomes]
rs12565272	0.91[ASN][1000 genomes]
rs1335095	0.88[EUR][1000 genomes]
rs1413991	0.87[EUR][1000 genomes]
rs1526504	0.92[ASN][1000 genomes]
rs1526505	0.92[ASN][1000 genomes]
rs1526513	0.82[ASN][1000 genomes]
rs17096272	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17096289	0.80[ASN][1000 genomes]
rs1852347	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4559444	0.84[EUR][1000 genomes]
rs4949725	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6685645	0.92[EUR][1000 genomes]
rs7520936	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7535534	0.80[ASN][1000 genomes]
rs9787288	0.86[EUR][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	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75559600-75566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:75563600-75565200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:75564400-75565000	Enhancers	A549	lung

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