Variant report

Variant	rs10857512
Chromosome Location	chr10:50790190-50790191
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10857513	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101137	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs11101152	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11101167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101174	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11527805	0.94[CHB][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11594945	0.81[CHB][hapmap]
rs12218602	0.81[CHB][hapmap]
rs12219170	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12220085	0.89[CHB][hapmap]
rs12259435	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12411620	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413113	0.81[CHB][hapmap]
rs12415597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17177717	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1917799	0.81[CHB][hapmap]
rs2222638	0.81[CHB][hapmap]
rs2281794	0.90[CHB][hapmap]
rs3750748	0.90[CHB][hapmap]
rs4253004	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4253013	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs4253043	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs4253060	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs4253095	0.90[CHB][hapmap]
rs60981594	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10857512	DDX6	trans	brain	seeQTL
rs10857512	MTIF2	trans	brain	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50781200-50792000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:50782200-50790200	Weak transcription	Osteobl	bone
3	chr10:50787800-50793000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:50787800-50793000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:50787800-50793000	Weak transcription	NHEK	skin
6	chr10:50788000-50793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:50788200-50793000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:50788400-50793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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