Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11120467	1.00[MKK][hapmap]
rs11120469	1.00[AFR][1000 genomes]
rs11120470	0.80[AFR][1000 genomes]
rs11120471	0.80[AFR][1000 genomes]
rs11120472	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11120474	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12061587	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12062465	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12066174	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12069528	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12069674	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12078139	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12082755	1.00[AFR][1000 genomes]
rs12084973	0.90[AFR][1000 genomes]
rs12087979	0.80[AFR][1000 genomes]
rs12089490	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12090549	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs12092077	1.00[AFR][1000 genomes]
rs12096956	0.82[ASW][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs12097853	1.00[YRI][hapmap];0.94[AFR][1000 genomes]

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	nsv468105	chr1:215167236-215248417	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv549182	chr1:215167236-215248417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12088528	ST8SIA1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215177200-215211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:215198000-215206200	Weak transcription	Osteobl	bone
3	chr1:215199400-215206000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215204000-215204800	Strong transcription	NHDF-Ad	bronchial

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