Variant report

No.	Distal block	Cell Line	Cell type
1	chr10:48635828..48638231-chr10:48639241..48640747,2	MCF-7	breast:
2	chr10:48621884..48623411-chr10:48639407..48642353,2	MCF-7	breast:
3	chr10:48631773..48635312-chr10:48638153..48641553,3	MCF-7	breast:

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

rs_ID	r²[population]
rs2790938	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2790939	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2790941	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2790942	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2790944	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2790946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709624	0.94[ASN][1000 genomes]
rs709625	0.94[ASN][1000 genomes]
rs72792210	0.94[ASN][1000 genomes]
rs72792211	0.94[ASN][1000 genomes]
rs755120	0.94[ASN][1000 genomes]
rs786779	0.94[ASN][1000 genomes]
rs786780	0.94[ASN][1000 genomes]
rs786783	0.94[ASN][1000 genomes]
rs786784	0.94[ASN][1000 genomes]
rs786787	0.94[ASN][1000 genomes]
rs786793	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs786806	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs786808	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs786822	0.97[ASN][1000 genomes]
rs813092	0.94[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	esv2758218	chr10:48593396-49299273	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2759748	chr10:48593396-49299273	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2790937	ANXA8	cis	multi-tissue	Pritchard

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:48625800-48649400	Weak transcription	Thymus	Thymus
2	chr10:48637800-48641200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:48638200-48641400	Weak transcription	Fetal Lung	lung

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