Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182659802..182662232-chr2:182760144..182763028,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497586	0.82[ASN][1000 genomes]
rs11891680	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11898530	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11902326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612058	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12618902	0.85[ASN][1000 genomes]
rs12620901	0.97[ASN][1000 genomes]
rs12622894	0.88[ASN][1000 genomes]
rs13387144	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427333	0.85[ASN][1000 genomes]
rs1528028	0.85[ASN][1000 genomes]
rs16867496	0.82[ASN][1000 genomes]
rs16867503	0.89[ASN][1000 genomes]
rs16867506	0.88[ASN][1000 genomes]
rs1991374	0.86[ASN][1000 genomes]
rs4597474	0.80[ASN][1000 genomes]
rs57000426	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57281910	0.85[ASN][1000 genomes]
rs57971040	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59159077	0.85[ASN][1000 genomes]
rs59956987	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60200067	0.85[ASN][1000 genomes]
rs61246630	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720578	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567399	1.00[ASN][1000 genomes]
rs7581484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584725	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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182657200-182661400	Weak transcription	Osteobl	bone
2	chr2:182657200-182669800	Weak transcription	NHDF-Ad	bronchial
3	chr2:182660600-182661200	Weak transcription	HMEC	breast

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