Variant report

Variant	rs1654521
Chromosome Location	chr19:51489644-51489645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:51489415-51489668	HepG2	liver:	n/a	chr19:51489525-51489540

Variant related genes	Relation type
KLK7	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10420303	0.96[CEU][hapmap]
rs1532901	0.83[CEU][hapmap]
rs1612902	0.92[EUR][1000 genomes]
rs1654519	0.97[ASN][1000 genomes]
rs1654520	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1654539	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1654542	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs1654543	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1701914	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1701915	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1701946	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1701947	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1701948	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1722545	0.98[ASN][1000 genomes]
rs1722546	0.99[ASN][1000 genomes]
rs1722547	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1722550	0.82[CEU][hapmap]
rs1722559	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1722560	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1722561	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1722563	0.92[EUR][1000 genomes]
rs1897605	0.92[EUR][1000 genomes]
rs1897606	0.92[EUR][1000 genomes]
rs2075802	0.92[CEU][hapmap]
rs2569439	0.86[CHB][hapmap]
rs2569478	0.92[CEU][hapmap]
rs2659071	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs268893	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268894	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268895	0.99[ASN][1000 genomes]
rs268896	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268897	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268899	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6509509	0.81[CEU][hapmap]
rs906191	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs952108	0.86[CEU][hapmap]
rs952109	0.86[CEU][hapmap]

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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