Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37541321..37543959-chr2:37558220..37560701,2	K562	blood:
2	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115828	Chromatin interaction
ENSG00000115825	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10190959	0.82[ASN][1000 genomes]
rs11124578	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1158218	0.86[ASN][1000 genomes]
rs1158219	0.86[ASN][1000 genomes]
rs11689794	0.86[ASN][1000 genomes]
rs12616151	0.83[ASN][1000 genomes]
rs12712532	0.88[ASN][1000 genomes]
rs13015451	0.87[ASN][1000 genomes]
rs13030789	0.82[ASN][1000 genomes]
rs13420463	0.81[ASN][1000 genomes]
rs17020386	0.81[EUR][1000 genomes]
rs17020490	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1989172	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2268987	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2300881	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300884	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2372993	0.86[ASN][1000 genomes]
rs3770757	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4581878	0.80[ASN][1000 genomes]
rs4670194	0.96[ASN][1000 genomes]
rs4670195	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4670688	0.91[ASN][1000 genomes]
rs4670689	0.94[ASN][1000 genomes]
rs56774710	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57361399	0.87[ASN][1000 genomes]
rs6544066	0.90[ASN][1000 genomes]
rs71398224	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74177070	0.81[ASN][1000 genomes]
rs7563610	0.83[ASN][1000 genomes]
rs7568510	0.85[ASN][1000 genomes]
rs7570547	0.86[ASN][1000 genomes]
rs7584565	0.87[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37553800-37562200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:37558400-37562400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:37560000-37560800	Enhancers	Primary B cells from peripheral blood	blood

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