Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130056568..130058887-chr8:130060600..130062336,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10435554	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1157275	0.81[AFR][1000 genomes]
rs12550011	1.00[ASN][1000 genomes]
rs13248403	0.86[AFR][1000 genomes]
rs1372442	0.83[AFR][1000 genomes]
rs1372443	0.83[AFR][1000 genomes]
rs34495693	0.84[AFR][1000 genomes]
rs34871599	0.81[AMR][1000 genomes]
rs34892339	0.89[AFR][1000 genomes]
rs4236737	0.83[AFR][1000 genomes]
rs4302810	0.83[AFR][1000 genomes]
rs4333552	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4371972	0.83[AFR][1000 genomes]
rs4385435	0.83[AFR][1000 genomes]
rs4551306	0.86[AFR][1000 genomes]
rs4733538	0.97[AFR][1000 genomes]
rs4733672	0.84[AFR][1000 genomes]
rs6470676	0.83[AFR][1000 genomes]
rs6470677	0.83[AFR][1000 genomes]
rs6470692	0.92[AFR][1000 genomes]
rs6470694	0.81[AMR][1000 genomes]
rs66748173	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989490	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6994850	0.86[AFR][1000 genomes]
rs6996806	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6998898	0.93[AFR][1000 genomes]
rs73382060	0.89[ASN][1000 genomes]
rs73382063	0.89[ASN][1000 genomes]
rs7820114	0.82[AFR][1000 genomes]
rs7834731	0.86[AFR][1000 genomes]
rs7836336	0.87[AFR][1000 genomes]
rs7843664	0.86[AFR][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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130055400-130060600	Weak transcription	Dnd41	blood

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