Variant report

Variant	rs1722563
Chromosome Location	chr19:51500021-51500022
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1532901	1.00[ASN][1000 genomes]
rs1612902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627239	1.00[ASN][1000 genomes]
rs1654520	0.92[EUR][1000 genomes]
rs1654521	0.92[EUR][1000 genomes]
rs1654539	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654543	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654558	0.95[ASN][1000 genomes]
rs1654559	0.96[ASN][1000 genomes]
rs1701914	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701915	0.89[EUR][1000 genomes]
rs1701916	1.00[ASN][1000 genomes]
rs1701919	0.99[ASN][1000 genomes]
rs1701920	0.99[ASN][1000 genomes]
rs1701921	0.96[ASN][1000 genomes]
rs1701946	0.85[EUR][1000 genomes]
rs1701947	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1722538	0.99[ASN][1000 genomes]
rs1722547	0.86[EUR][1000 genomes]
rs1722550	0.84[AMR][1000 genomes]
rs1722559	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1722560	0.93[EUR][1000 genomes]
rs1722561	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1722562	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897606	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659074	0.93[ASN][1000 genomes]
rs268893	0.93[EUR][1000 genomes]
rs268894	0.92[EUR][1000 genomes]
rs268896	0.93[EUR][1000 genomes]
rs268897	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs268898	0.92[EUR][1000 genomes]
rs6509509	0.85[AMR][1000 genomes]
rs906190	0.99[ASN][1000 genomes]
rs906191	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51496600-51502000	Weak transcription	NHEK	skin
2	chr19:51496600-51503000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:51498000-51502200	Weak transcription	HMEC	breast
4	chr19:51498000-51503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:51499200-51500400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51499200-51501600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:51499800-51503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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