Variant report

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

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

rs_ID	r²[population]
rs11989889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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]
rs4733684	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5003704	0.81[ASN][1000 genomes]
rs55806657	0.81[ASN][1000 genomes]
rs55835630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130237200-130249000	Weak transcription	K562	blood
2	chr8:130242000-130251800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:130244000-130251000	Weak transcription	Thymus	Thymus
4	chr8:130247000-130249000	Strong transcription	Fetal Thymus	thymus
5	chr8:130248200-130249400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130248200-130250400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130248200-130250600	Enhancers	HMEC	breast
8	chr8:130248600-130249200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:130248600-130249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:130248800-130249200	Enhancers	Muscle Satellite Cultured Cells	--

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