Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51432732..51437222-chr19:51477627..51480793,4	MCF-7	breast:
2	chr19:51434633..51437276-chr19:51470056..51473720,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167755	Chromatin interaction
ENSG00000267879	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10408037	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10408594	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10408900	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10410662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10410677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10420829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1654545	0.97[EUR][1000 genomes]
rs1701906	0.91[EUR][1000 genomes]
rs1701907	0.97[EUR][1000 genomes]
rs1701908	0.97[EUR][1000 genomes]
rs1701909	0.97[EUR][1000 genomes]
rs1701911	0.97[EUR][1000 genomes]
rs1865068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2659083	0.91[EUR][1000 genomes]
rs2659084	0.90[EUR][1000 genomes]
rs57044108	0.81[EUR][1000 genomes]
rs59178825	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59753071	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7246283	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7251270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7252452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7255117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7255259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51432800-51437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:51433200-51437600	Enhancers	HMEC	breast
3	chr19:51434000-51453200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51435600-51439000	Weak transcription	Esophagus	oesophagus
5	chr19:51436000-51437400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:51436000-51440000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:51436000-51440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:51436600-51437400	Enhancers	K562	blood
9	chr19:51436800-51437200	Flanking Active TSS	NHEK	skin
10	chr19:51436800-51437400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:51436800-51437400	Flanking Active TSS	A549	lung
12	chr19:51436800-51437400	Enhancers	Hela-S3	cervix
13	chr19:51437000-51437200	Enhancers	Gastric	stomach

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