Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209403276..209405119-chr1:209607404..209609101,2	MCF-7	breast:
2	chr1:209403047..209404912-chr1:209429099..209430969,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494918	0.94[ASN][1000 genomes]
rs10494919	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17188009	0.94[ASN][1000 genomes]
rs17188030	0.89[EUR][1000 genomes]
rs17260224	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17260245	0.84[EUR][1000 genomes]
rs4504891	0.89[AMR][1000 genomes]
rs55933101	0.94[ASN][1000 genomes]
rs59658508	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6661882	0.84[EUR][1000 genomes]
rs6681844	0.89[AMR][1000 genomes]
rs6687960	0.84[EUR][1000 genomes]
rs73085916	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73085919	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73085921	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73085926	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73085932	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74155423	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74155426	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7533402	0.89[EUR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3439351	chr1:209404154-209406702	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209404400-209409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209404800-209405000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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