Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112253344..112255730-chr5:112269581..112271953,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10447234	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515450	0.83[ASN][1000 genomes]
rs10515451	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515452	1.00[EUR][1000 genomes]
rs11241186	0.80[EUR][1000 genomes]
rs12152818	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152991	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187307	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188113	0.83[ASN][1000 genomes]
rs17135215	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17553240	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915006	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56209573	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56315627	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364425	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56398453	1.00[ASN][1000 genomes]
rs58304718	0.92[EUR][1000 genomes]
rs73789251	0.83[ASN][1000 genomes]
rs73789252	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73789253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73789254	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112266000-112270800	Weak transcription	Placenta	Placenta
3	chr5:112268800-112270600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:112268800-112270800	Enhancers	NHLF	lung
5	chr5:112268800-112271800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112269000-112270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:112269200-112270600	Enhancers	Osteobl	bone
8	chr5:112269200-112270800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:112269800-112270600	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:112269800-112270800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:112270000-112270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:112270200-112270600	Enhancers	HUVEC	blood vessel
13	chr5:112270200-112271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:112270200-112271800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:112270400-112270600	Enhancers	NHDF-Ad	bronchial
16	chr5:112270400-112271000	Enhancers	Monocytes-CD14+_RO01746	blood

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