Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10064080	0.96[EUR][1000 genomes]
rs10447234	0.83[ASN][1000 genomes]
rs10515451	0.93[GIH][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs10515452	0.81[GIH][hapmap];0.87[TSI][hapmap]
rs12152818	0.83[ASN][1000 genomes]
rs12152991	0.83[ASN][1000 genomes]
rs12187307	1.00[ASN][1000 genomes]
rs12188113	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354064	0.88[EUR][1000 genomes]
rs13360667	0.91[EUR][1000 genomes]
rs17135215	1.00[ASN][1000 genomes]
rs17553240	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28635838	0.84[EUR][1000 genomes]
rs28789211	0.96[EUR][1000 genomes]
rs3962814	0.88[EUR][1000 genomes]
rs4145650	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55915006	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56209573	1.00[ASN][1000 genomes]
rs56315627	0.83[ASN][1000 genomes]
rs56364425	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398453	0.83[ASN][1000 genomes]
rs728347	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs73227370	0.91[EUR][1000 genomes]
rs73789249	0.83[ASN][1000 genomes]
rs73789251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73789252	1.00[ASN][1000 genomes]
rs73789253	1.00[ASN][1000 genomes]
rs73789254	1.00[ASN][1000 genomes]
rs73789266	0.83[AMR][1000 genomes];0.92[EUR][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10515450	AQPEP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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