Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088408	0.85[EUR][1000 genomes]
rs10096381	0.83[EUR][1000 genomes]
rs10096421	0.93[EUR][1000 genomes]
rs10096511	0.84[EUR][1000 genomes]
rs10111950	0.83[EUR][1000 genomes]
rs11250097	0.87[EUR][1000 genomes]
rs11250098	0.83[EUR][1000 genomes]
rs11250099	0.86[EUR][1000 genomes]
rs34738102	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35910832	0.84[EUR][1000 genomes]
rs4285446	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4314618	0.83[EUR][1000 genomes]
rs4451266	0.99[EUR][1000 genomes]
rs4451267	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4841465	0.86[EUR][1000 genomes]
rs4841466	0.85[EUR][1000 genomes]
rs6601544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7010262	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7010719	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011106	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014861	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73662659	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7011268	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs7011268	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7011268	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10836200-10836600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:10836200-10837000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:10836400-10836800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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