Variant report

Variant	rs268896
Chromosome Location	chr19:51493195-51493196
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51465141..51466716-chr19:51492896..51495060,2	K562	blood:

Variant related genes	Relation type
ENSG00000167755	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1612902	0.93[EUR][1000 genomes]
rs1654519	0.99[ASN][1000 genomes]
rs1654520	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654521	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1654539	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1654542	0.93[EUR][1000 genomes]
rs1654543	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1701914	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1701915	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1701946	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701947	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1701948	0.96[ASN][1000 genomes]
rs1722545	0.99[ASN][1000 genomes]
rs1722546	1.00[ASN][1000 genomes]
rs1722547	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1722559	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1722560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1722561	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1722563	0.93[EUR][1000 genomes]
rs1897605	0.93[EUR][1000 genomes]
rs1897606	0.93[EUR][1000 genomes]
rs2659071	0.96[ASN][1000 genomes]
rs268893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268895	1.00[ASN][1000 genomes]
rs268897	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268899	0.99[ASN][1000 genomes]
rs906191	0.92[EUR][1000 genomes];0.91[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:2 , 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	chr19:51487600-51493800	Weak transcription	HMEC	breast

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