Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192895816..192898455-chr1:192898887..192900802,2	MCF-7	breast:
2	chr1:192895978..192897609-chr1:192900333..192902139,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10754036	0.97[EUR][1000 genomes]
rs10801170	1.00[GIH][hapmap]
rs10921300	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12117621	0.87[EUR][1000 genomes]
rs12118267	0.94[EUR][1000 genomes]
rs12123511	1.00[GIH][hapmap]
rs12124274	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12125252	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12132131	0.97[EUR][1000 genomes]
rs12132305	1.00[GIH][hapmap]
rs12133193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12133295	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12138298	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143913	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1339591	0.97[EUR][1000 genomes]
rs2066216	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2486496	0.97[EUR][1000 genomes]
rs28461227	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2887640	1.00[GIH][hapmap]
rs35686688	0.83[EUR][1000 genomes]
rs6680068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72738564	0.97[EUR][1000 genomes]
rs72738565	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72738572	0.87[EUR][1000 genomes]
rs72738574	0.87[EUR][1000 genomes]
rs7415619	1.00[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs842805	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs842815	0.97[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17525308	GLRX2	cis	parietal	SCAN
rs17525308	UCHL5	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192895200-192897600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:192895200-192897600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:192895800-192896800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:192896400-192896800	Enhancers	Fetal Heart	heart

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