Variant report

Variant	rs12163757
Chromosome Location	chr4:22537387-22537388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10000592	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1072749	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12503531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1813585	0.81[CEU][hapmap]
rs2010711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2010720	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55679609	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56134375	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56288407	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57126433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57520256	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61793446	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61793582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61793583	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61793584	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61795769	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61795774	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61795775	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68087263	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6811994	1.00[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6827718	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6858626	0.90[CEU][hapmap]
rs73119638	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7667546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7680019	0.89[AMR][1000 genomes];0.93[EUR][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12163757	SOD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22536800-22543600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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