Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209422329..209425233-chr1:209428523..209430136,2	MCF-7	breast:
2	chr1:209403047..209404912-chr1:209429099..209430969,2	K562	blood:

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

rs_ID	r²[population]
rs1507332	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1507333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553623	0.89[EUR][1000 genomes]
rs17188030	0.83[EUR][1000 genomes]
rs17260224	0.92[EUR][1000 genomes]
rs17260245	0.92[EUR][1000 genomes]
rs2055700	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2788153	0.81[EUR][1000 genomes]
rs2800930	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504891	0.85[EUR][1000 genomes]
rs59658508	0.85[EUR][1000 genomes]
rs6661882	0.92[EUR][1000 genomes]
rs6681844	0.85[EUR][1000 genomes]
rs6687960	0.92[EUR][1000 genomes]
rs73085919	0.85[EUR][1000 genomes]
rs73085921	0.83[EUR][1000 genomes]
rs73085926	0.85[EUR][1000 genomes]
rs73085932	0.85[EUR][1000 genomes]
rs73085944	0.85[EUR][1000 genomes]
rs73085950	0.85[EUR][1000 genomes]
rs7533402	0.83[EUR][1000 genomes]
rs949488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976940	0.89[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	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209424800-209439600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209426200-209429600	Weak transcription	Fetal Brain Female	brain
3	chr1:209429400-209431000	Enhancers	Fetal Brain Male	brain

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