Variant report

Variant	rs728347
Chromosome Location	chr5:112291861-112291862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112288458..112290057-chr5:112290062..112292637,2	K562	blood:
2	chr5:112291720..112294004-chr5:112309905..112311791,2	MCF-7	breast:
3	chr5:112197090..112198840-chr5:112290373..112292054,2	K562	blood:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10064080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10515450	0.91[EUR][1000 genomes]
rs10515451	0.91[GIH][hapmap];0.82[TSI][hapmap]
rs10515452	0.82[TSI][hapmap]
rs12188113	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13354064	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13360667	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135193	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17553240	0.96[EUR][1000 genomes]
rs28635838	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28789211	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3962814	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4145650	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs56364425	0.99[EUR][1000 genomes]
rs57749964	0.87[ASN][1000 genomes]
rs58775131	0.85[ASN][1000 genomes]
rs59349522	0.82[ASN][1000 genomes]
rs6864403	0.81[JPT][hapmap]
rs6864647	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs728344	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73227370	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73227382	0.87[ASN][1000 genomes]
rs73227383	0.90[ASN][1000 genomes]
rs73789251	0.94[EUR][1000 genomes]
rs73789266	0.99[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs728347	AQPEP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112289400-112293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112291600-112297600	Enhancers	HepG2	liver
3	chr5:112291800-112292600	Enhancers	A549	lung
4	chr5:112291800-112294400	Enhancers	Brain Germinal Matrix	brain

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