Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113720795..113722633-chr1:114015124..114017356,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11102629	0.98[EUR][1000 genomes]
rs11102646	0.87[EUR][1000 genomes]
rs11578447	0.87[EUR][1000 genomes]
rs12117465	0.93[EUR][1000 genomes]
rs12117919	0.91[EUR][1000 genomes]
rs12119281	0.98[EUR][1000 genomes]
rs12125741	0.98[EUR][1000 genomes]
rs12127683	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12130729	0.92[EUR][1000 genomes]
rs12130763	0.98[EUR][1000 genomes]
rs12131115	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12134802	0.87[EUR][1000 genomes]
rs12135714	0.87[EUR][1000 genomes]
rs12144505	0.93[EUR][1000 genomes]
rs12145834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17448063	0.93[EUR][1000 genomes]
rs17461007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17461231	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17507884	0.93[EUR][1000 genomes]
rs1936931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2359415	0.98[EUR][1000 genomes]
rs6537788	0.93[EUR][1000 genomes]
rs7533429	0.92[AMR][1000 genomes];0.98[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3444669	chr1:113995959-114038884	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114001600-114021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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