Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:172103436..172106886-chr2:172113198..172116997,4	K562	blood:
2	chr2:172108531..172110153-chr2:172113269..172116187,2	K562	blood:
3	chr2:172110537..172112396-chr2:172112575..172115303,2	K562	blood:

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

rs_ID	r²[population]
rs10803857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10930463	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11685357	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12613399	0.93[ASN][1000 genomes]
rs1477181	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17218110	0.96[ASN][1000 genomes]
rs17283817	0.95[ASN][1000 genomes]
rs1861769	0.95[ASN][1000 genomes]
rs2111461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2111462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2160701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667681	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62169054	0.95[ASN][1000 genomes]
rs7566096	0.96[ASN][1000 genomes]
rs7583118	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7598187	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7609530	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9287944	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs953505	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9653290	0.96[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	chr2:172112000-172118600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:172113400-172116800	Weak transcription	HepG2	liver

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