Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124807453..124810257-chr4:124819316..124821753,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10034152	0.83[AMR][1000 genomes]
rs1116266	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11732946	0.83[AMR][1000 genomes]
rs12639622	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12648267	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13109690	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13116100	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1519242	0.83[AMR][1000 genomes]
rs17492375	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2082502	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3097937	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3097939	0.81[AMR][1000 genomes]
rs34759155	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34845433	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35988830	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57389113	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62321841	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321845	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321850	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6845345	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986345	0.82[AMR][1000 genomes];0.84[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124818400-124826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:124820800-124823000	Weak transcription	Psoas Muscle	Psoas

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