Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49624881..49627571-chr3:49627847..49630160,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11130202	0.94[AFR][1000 genomes]
rs11130206	0.86[AFR][1000 genomes]
rs11713474	0.84[ASN][1000 genomes]
rs11720264	0.93[AFR][1000 genomes]
rs11720458	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11720597	0.80[ASN][1000 genomes]
rs11926781	0.84[ASN][1000 genomes]
rs12636099	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1568661	0.82[ASN][1000 genomes]
rs1568662	0.82[AFR][1000 genomes]
rs34427167	0.84[ASN][1000 genomes]
rs35701831	0.82[ASN][1000 genomes]
rs35999162	0.80[ASN][1000 genomes]
rs3924462	0.83[AFR][1000 genomes]
rs4241406	0.82[ASN][1000 genomes]
rs4855859	0.83[AFR][1000 genomes]
rs4855861	0.83[AFR][1000 genomes]
rs4855864	0.82[ASN][1000 genomes]
rs7371895	0.82[AFR][1000 genomes]
rs7637999	0.85[AFR][1000 genomes]
rs7643845	0.83[AFR][1000 genomes]
rs9858280	0.80[ASN][1000 genomes]
rs9875617	0.80[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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6787417	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs6787417	WDR6	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49624800-49626400	Active TSS	K562	blood
2	chr3:49626000-49626400	Enhancers	HepG2	liver

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