Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10948105..10949056-chr8:11136741..11137629,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10105315	0.85[AMR][1000 genomes]
rs10108618	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773990	0.80[AMR][1000 genomes]
rs11991118	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11991716	1.00[ASN][1000 genomes]
rs17723229	0.83[AMR][1000 genomes]
rs2409691	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2409694	1.00[ASN][1000 genomes]
rs28719598	0.85[ASN][1000 genomes]
rs2898256	0.84[AMR][1000 genomes]
rs2898257	0.80[AMR][1000 genomes]
rs2898260	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34094119	0.80[AMR][1000 genomes]
rs4840542	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841489	0.80[AMR][1000 genomes]
rs4841490	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6601559	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601560	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980856	0.84[AMR][1000 genomes]
rs6982381	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017567	0.85[AMR][1000 genomes]
rs7812573	0.85[ASN][1000 genomes]
rs7820860	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835318	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657519	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs28722721	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs28722721	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs28722721	AF131215.9	cis	Skin Sun Exposed Lower leg	GTEx
rs28722721	AF131215.2	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10948400-10949600	Enhancers	Gastric	stomach
2	chr8:10948600-10949600	Enhancers	Duodenum Mucosa	Duodenum

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