Variant report

Variant	rs12056596
Chromosome Location	chr8:113288034-113288035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1420853	0.88[EUR][1000 genomes]
rs16883328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883355	0.89[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16883386	0.82[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16883388	0.89[CHB][hapmap];0.92[ASN][1000 genomes]
rs16883422	1.00[YRI][hapmap]
rs16883458	1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs16883508	1.00[CEU][hapmap]
rs28760595	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41369344	0.80[CHB][hapmap]
rs4308763	1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs57156290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7001344	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73326607	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73326609	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73326611	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73326612	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73326660	0.82[ASN][1000 genomes]
rs73341004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73341008	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73341073	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7827543	0.84[EUR][1000 genomes]
rs7841225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr8:113286000-113288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113288000-113288800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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