Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51465646..51468437-chr19:51495218..51498068,3	MCF-7	breast:
2	chr19:51487899..51489635-chr19:51493828..51496214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167755	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1532901	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1612902	0.95[ASN][1000 genomes]
rs1627239	0.95[ASN][1000 genomes]
rs1654539	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1654542	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1654543	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1654559	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1701914	0.95[ASN][1000 genomes]
rs1701916	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1701919	0.96[ASN][1000 genomes]
rs1701920	0.96[ASN][1000 genomes]
rs1701921	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1722538	0.96[ASN][1000 genomes]
rs1722559	0.95[ASN][1000 genomes]
rs1722561	0.95[ASN][1000 genomes]
rs1722562	0.95[ASN][1000 genomes]
rs1722563	0.95[ASN][1000 genomes]
rs1897605	0.95[ASN][1000 genomes]
rs1897606	0.95[ASN][1000 genomes]
rs2075802	0.87[JPT][hapmap]
rs2222554	0.80[JPT][hapmap]
rs2659074	0.95[ASN][1000 genomes]
rs2659096	0.82[JPT][hapmap]
rs906190	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[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	nsv1064207	chr19:51474525-51497278	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1058277	chr19:51488544-51509847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1654558	ZNF835	cis	parietal	SCAN
rs1654558	RPS5	cis	parietal	SCAN
rs1654558	NCR1	cis	parietal	SCAN
rs1654558	ZNF132	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51493800-51496800	Enhancers	HMEC	breast
2	chr19:51494200-51498000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51495000-51496600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:51495000-51496600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:51495200-51496400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51495600-51496200	Flanking Active TSS	NHEK	skin

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