Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:130241712..130245181-chr8:130247946..130250887,3	K562	blood:
2	chr8:130242424..130245268-chr8:130255791..130258029,2	K562	blood:
3	chr8:130241310..130242932-chr8:130248585..130251478,2	K562	blood:

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

rs_ID	r²[population]
rs11986766	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994734	0.81[ASN][1000 genomes]
rs11994768	0.81[ASN][1000 genomes]
rs11997664	0.81[ASN][1000 genomes]
rs11997752	0.81[ASN][1000 genomes]
rs28665337	0.81[ASN][1000 genomes]
rs3935421	0.81[ASN][1000 genomes]
rs4422741	0.81[ASN][1000 genomes]
rs4484652	0.81[ASN][1000 genomes]
rs4557668	0.81[ASN][1000 genomes]
rs4571701	0.81[ASN][1000 genomes]
rs5003704	0.81[ASN][1000 genomes]
rs55806657	0.81[ASN][1000 genomes]
rs55835630	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361426	0.81[ASN][1000 genomes]
rs56397715	0.81[ASN][1000 genomes]
rs6470703	0.81[ASN][1000 genomes]
rs6995223	0.81[ASN][1000 genomes]
rs73388076	0.81[ASN][1000 genomes]
rs73388080	0.81[ASN][1000 genomes]
rs7460736	0.81[ASN][1000 genomes]
rs7830899	0.81[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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv612229	chr8:130213203-130252229	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130237200-130249000	Weak transcription	K562	blood
2	chr8:130242000-130243000	Weak transcription	Thymus	Thymus
3	chr8:130242000-130251800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr8:130242800-130243000	Enhancers	Fetal Thymus	thymus

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