Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127881388..127883013-chr5:127901894..127903649,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10039900	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10040056	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10062344	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063362	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10063961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897998	0.83[ASN][1000 genomes]
rs55721088	0.81[ASN][1000 genomes]
rs55735252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58889726	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60975118	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6595836	0.83[ASN][1000 genomes]
rs6595837	0.83[ASN][1000 genomes]
rs6595841	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595842	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6864057	0.81[ASN][1000 genomes]
rs6893301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346331	0.83[ASN][1000 genomes]
rs73787623	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73787627	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722917	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127882200-127883200	Enhancers	NHEK	skin
2	chr5:127882200-127883400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:127882400-127882600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:127882400-127882800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:127882400-127883000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:127882400-127883000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:127882400-127883200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:127882400-127883200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:127882400-127883600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:127882400-127883600	Enhancers	Placenta	Placenta

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