Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:124140032..124140554-chr5:111855676..111856423,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11740414	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11745418	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11748780	0.82[EUR][1000 genomes]
rs1422541	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1445934	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1445935	0.81[EUR][1000 genomes]
rs163456	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338842	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs338843	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs338850	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs338854	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs338863	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs338864	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs338867	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs338869	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs341289	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs341290	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs401722	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs430143	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs445130	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4574588	0.80[EUR][1000 genomes]
rs73223853	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111855200-111857000	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:111855600-111856400	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:111855600-111859400	Enhancers	Primary B cells from cord blood	blood
4	chr5:111855800-111857600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:111856200-111856400	Enhancers	GM12878-XiMat	blood

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