Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99050817..99053848-chr8:99067344..99069783,4	K562	blood:
2	chr8:99051622..99053848-chr8:99067890..99069783,2	K562	blood:

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

rs_ID	r²[population]
rs10955141	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955142	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955145	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955146	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955147	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11776602	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11777189	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11784449	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11785807	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13254615	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13254737	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13255477	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13263078	1.00[ASN][1000 genomes]
rs13439743	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290469	0.91[EUR][1000 genomes]
rs28522929	1.00[ASN][1000 genomes]
rs35170774	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	0.83[EUR][1000 genomes]
rs56137923	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6986891	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6987112	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9918864	0.94[ASN][1000 genomes]
rs9918865	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr8:99059200-99070800	Weak transcription	A549	lung
2	chr8:99059200-99071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:99059400-99076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:99064800-99076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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