Variant report

Variant	rs268894
Chromosome Location	chr19:51493983-51493984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51487899..51489635-chr19:51493828..51496214,2	MCF-7	breast:
2	chr19:51466266..51466970-chr19:51493872..51494430,2	MCF-7	breast:
3	chr19:51465141..51466716-chr19:51492896..51495060,2	K562	blood:

Variant related genes	Relation type
ENSG00000167755	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10420303	0.92[CEU][hapmap]
rs1532901	0.87[CEU][hapmap]
rs1612902	0.92[EUR][1000 genomes]
rs1654519	0.99[ASN][1000 genomes]
rs1654520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654521	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]
rs1654539	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1654542	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1654543	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1701914	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1701915	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1701946	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1701947	0.96[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1701948	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1722545	0.99[ASN][1000 genomes]
rs1722546	1.00[ASN][1000 genomes]
rs1722547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1722559	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1722560	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1722561	0.87[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	0.96[CEU][hapmap]
rs2569439	0.86[CHB][hapmap]
rs2569478	0.89[CEU][hapmap]
rs2659071	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs268893	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]
rs268896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268897	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268898	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs268899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6509509	0.85[CEU][hapmap]
rs906191	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs952108	0.89[CEU][hapmap]
rs952109	0.89[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	chr19:51493600-51495200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:51493800-51496800	Enhancers	HMEC	breast

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