Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:51488854-51489108	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51482020..51484953-chr19:51487883..51489631,2	MCF-7	breast:
2	chr19:51487899..51489635-chr19:51493828..51496214,2	MCF-7	breast:

Variant related genes	Relation type
KLK7	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1612902	0.86[EUR][1000 genomes]
rs1654520	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1654521	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1654539	0.88[EUR][1000 genomes]
rs1654542	0.86[EUR][1000 genomes]
rs1654543	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1701914	0.89[EUR][1000 genomes]
rs1701915	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1701946	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1701947	0.80[EUR][1000 genomes]
rs1722559	0.89[EUR][1000 genomes]
rs1722560	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1722561	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1722563	0.86[EUR][1000 genomes]
rs1897605	0.86[EUR][1000 genomes]
rs1897606	0.86[EUR][1000 genomes]
rs268893	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs268894	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs268896	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs268897	0.85[EUR][1000 genomes]
rs268898	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs906191	0.85[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	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51487400-51494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:51487600-51492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51487600-51493800	Weak transcription	HMEC	breast

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