Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79579962..79582569-chr5:79583098..79584798,2	K562	blood:

Variant related genes	Relation type
ENSG00000249438	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10074004	0.86[ASN][1000 genomes]
rs10075671	0.86[ASN][1000 genomes]
rs10942916	1.00[ASN][1000 genomes]
rs11738136	0.88[ASN][1000 genomes]
rs11749041	0.96[ASN][1000 genomes]
rs12519081	1.00[ASN][1000 genomes]
rs12653544	0.84[ASN][1000 genomes]
rs12655682	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12657791	0.86[ASN][1000 genomes]
rs12658132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12659957	0.86[ASN][1000 genomes]
rs13159554	0.86[ASN][1000 genomes]
rs13163577	0.86[ASN][1000 genomes]
rs13180593	0.96[ASN][1000 genomes]
rs13188686	0.96[ASN][1000 genomes]
rs2112156	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28508166	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36034781	0.96[ASN][1000 genomes]
rs56289111	0.96[ASN][1000 genomes]
rs62364038	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6859566	0.93[ASN][1000 genomes]
rs6868653	0.81[ASN][1000 genomes]
rs6886552	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72778015	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv964902	chr5:79578051-79585364	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79580600-79595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79580800-79583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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