Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1400552	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517119	0.80[ASN][1000 genomes]
rs1517120	0.80[ASN][1000 genomes]
rs1589055	0.80[ASN][1000 genomes]
rs1607143	0.91[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs1880535	0.82[GIH][hapmap]
rs2048891	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs2048892	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2090421	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs2249536	0.89[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs2249556	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252535	0.89[ASN][1000 genomes]
rs2263127	0.80[ASN][1000 genomes]
rs2591003	0.83[CHB][hapmap]
rs2591013	0.91[CHB][hapmap];0.81[YRI][hapmap]
rs2591017	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2591018	0.81[CHD][hapmap];0.80[GIH][hapmap]
rs2676658	0.81[CHD][hapmap]
rs2692027	0.81[JPT][hapmap]
rs7013706	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829425	0.81[JPT][hapmap]
rs814441	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508512	chr8:69268794-69324532	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1023810	chr8:69308665-69440129	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv539644	chr8:69308665-69440129	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3354256	chr8:69322322-69322734	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7009736	COPS5	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69317200-69342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:69321000-69324000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:69321400-69322400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:69322000-69322400	Enhancers	NHEK	skin

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