Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30344144..30346058-chr2:30351216..30353402,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1137288	0.81[ASN][1000 genomes]
rs11886753	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12463847	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469080	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13403749	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424818	0.81[AFR][1000 genomes]
rs17009192	0.93[EUR][1000 genomes]
rs2084335	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087895	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754535	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951983	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4952095	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952096	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952098	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952102	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735005	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59074474	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7567202	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7600457	0.81[ASN][1000 genomes]
rs7603324	0.81[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30350600-30359200	Weak transcription	NHEK	skin
2	chr2:30351800-30358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

Quick Search: