Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30515123..30517427-chr22:30522395..30523982,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1468176	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1548389	0.84[EUR][1000 genomes]
rs193471	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs193474	0.84[AMR][1000 genomes]
rs193475	0.84[AMR][1000 genomes]
rs193476	0.85[AMR][1000 genomes]
rs1989870	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412972	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2412976	0.86[EUR][1000 genomes]
rs41176	0.85[AMR][1000 genomes]
rs4336042	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820827	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4823076	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753008	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753025	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753037	0.81[EUR][1000 genomes]
rs5763751	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5763775	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5763779	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5763842	0.86[EUR][1000 genomes]
rs7287570	0.88[AMR][1000 genomes];0.87[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763790	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30519200-30525400	Weak transcription	A549	lung
2	chr22:30519600-30523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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