Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224783008..224785981-chr1:224788493..224791449,2	MCF-7	breast:
2	chr1:224778814..224780539-chr1:224784357..224786736,2	K562	blood:

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

rs_ID	r²[population]
rs10799588	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10799589	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10916653	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499292	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566388	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1932991	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2405315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2405317	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4654057	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654058	0.81[EUR][1000 genomes]
rs4654060	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658957	0.80[EUR][1000 genomes]
rs6665204	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690184	0.80[EUR][1000 genomes]
rs6697510	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529774	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7532595	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs883115	0.81[EUR][1000 genomes]
rs904505	0.81[EUR][1000 genomes]
rs969026	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224781200-224793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224781600-224787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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