Variant report

Variant	rs1722538
Chromosome Location	chr19:51496709-51496710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51496140..51499135-chr19:51503262..51506454,3	MCF-7	breast:
2	chr19:51465646..51468437-chr19:51495218..51498068,3	MCF-7	breast:
3	chr19:51480632..51483251-chr19:51496429..51498251,2	K562	blood:

Variant related genes	Relation type
ENSG00000167755	Chromatin interaction
ENSG00000129455	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1532901	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1612902	0.99[ASN][1000 genomes]
rs1627239	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1654519	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1654539	0.99[ASN][1000 genomes]
rs1654542	0.99[ASN][1000 genomes]
rs1654543	0.99[ASN][1000 genomes]
rs1654558	0.96[ASN][1000 genomes]
rs1654559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1701914	0.99[ASN][1000 genomes]
rs1701916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1701919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1701948	0.90[EUR][1000 genomes]
rs1722545	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1722546	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1722559	0.99[ASN][1000 genomes]
rs1722561	0.99[ASN][1000 genomes]
rs1722562	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1722563	0.99[ASN][1000 genomes]
rs1897605	0.99[ASN][1000 genomes]
rs1897606	0.99[ASN][1000 genomes]
rs2659071	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2659074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs268895	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs268899	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs906190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

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	chr19:51496400-51499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:51496600-51499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:51496600-51502000	Weak transcription	NHEK	skin
6	chr19:51496600-51503000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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