Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118043645..118045454-chr8:118048190..118050683,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11778640	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781136	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781519	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781617	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11990337	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12547184	0.81[ASN][1000 genomes]
rs12549895	0.81[ASN][1000 genomes]
rs13251837	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253360	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258165	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266865	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744897	0.81[ASN][1000 genomes]
rs17744945	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744969	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745004	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745016	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812479	0.81[ASN][1000 genomes]
rs17812503	0.81[ASN][1000 genomes]
rs2938860	0.81[ASN][1000 genomes]
rs71530853	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963926	0.99[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1032976	chr8:118032075-118065907	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118045800-118050600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:118046200-118050600	Weak transcription	HSMM	muscle
3	chr8:118046400-118050400	Weak transcription	NHDF-Ad	bronchial
4	chr8:118046600-118050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:118047000-118050600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:118047200-118050400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:118047600-118048400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:118048200-118050800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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