Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:172108447..172110160-chr2:172123485..172125830,2	K562	blood:
2	chr2:172108531..172110153-chr2:172113269..172116187,2	K562	blood:
3	chr2:172098406..172101541-chr2:172106282..172109869,4	MCF-7	breast:

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

rs_ID	r²[population]
rs10803857	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685357	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11690059	0.86[ASN][1000 genomes]
rs12611999	0.86[ASN][1000 genomes]
rs1319152	0.99[ASN][1000 genomes]
rs1477181	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1861770	0.95[ASN][1000 genomes]
rs2111461	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111462	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160701	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193455	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4667681	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433286	0.99[ASN][1000 genomes]
rs6754377	0.99[ASN][1000 genomes]
rs72625231	0.88[ASN][1000 genomes]
rs7583118	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7598187	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7609530	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9287944	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953505	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172103200-172120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172108800-172110000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:172109000-172109200	Enhancers	GM12878-XiMat	blood

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