Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166849563..166852830-chr1:166854129..166856433,3	K562	blood:
2	chr1:166844292..166848543-chr1:166849353..166853640,5	K562	blood:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10800270	0.85[ASN][1000 genomes]
rs10800276	0.98[ASN][1000 genomes]
rs11576904	0.88[EUR][1000 genomes]
rs11583927	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584352	1.00[ASN][1000 genomes]
rs12062326	0.80[ASN][1000 genomes]
rs12562794	0.84[ASN][1000 genomes]
rs1543313	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038020	0.90[EUR][1000 genomes]
rs2038022	0.90[EUR][1000 genomes]
rs2072740	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075946	0.80[ASN][1000 genomes]
rs2223221	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280995	1.00[ASN][1000 genomes]
rs2294195	0.95[ASN][1000 genomes]
rs2294220	0.82[EUR][1000 genomes]
rs34381372	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657609	0.98[ASN][1000 genomes]
rs4657612	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657613	0.97[ASN][1000 genomes]
rs7513457	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9633326	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166846200-166853200	Weak transcription	Right Atrium	heart

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