Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:122139837..122144017-chr12:122148702..122152196,8	MCF-7	breast:
2	chr12:122142645..122144622-chr12:122148982..122151590,2	K562	blood:
3	chr12:122141083..122143497-chr12:122146339..122148125,2	K562	blood:
4	chr12:122141897..122143809-chr12:122241612..122244065,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10743188	0.84[EUR][1000 genomes]
rs10840652	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11043179	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877484	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309142	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2669163	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2669165	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2669166	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669168	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2720021	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2720022	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2720024	0.82[AMR][1000 genomes]
rs2720035	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2942368	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2942370	0.89[AMR][1000 genomes]
rs2942379	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2954116	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7296104	0.82[AMR][1000 genomes]
rs7297028	0.80[EUR][1000 genomes]
rs7978866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122141200-122147000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:122141400-122146400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:122142600-122149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122142800-122149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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