Variant report

Variant	rs1581007
Chromosome Location	chr12:56461135-56461136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56460906..56463443-chr12:56465823..56468206,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11171736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1619653	0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1689507	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1689516	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1701705	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs1702870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1702871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1702875	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2452822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452826	0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2456445	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs705706	0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309340	0.81[AFR][1000 genomes]
rs772917	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs772924	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs772925	0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs772926	0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs773118	0.87[AFR][1000 genomes]
rs7977521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs808896	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs808905	0.82[AFR][1000 genomes]
rs9738150	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 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	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion

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