Variant report

Variant	rs12696113
Chromosome Location	chr3:160731443-160731444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10154889	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10433352	0.86[AMR][1000 genomes]
rs11715733	0.86[AMR][1000 genomes]
rs11717272	0.81[AMR][1000 genomes]
rs11720263	0.80[AMR][1000 genomes]
rs11922957	0.82[AMR][1000 genomes]
rs11922959	0.82[AMR][1000 genomes]
rs12696112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12696114	0.81[AMR][1000 genomes]
rs13060718	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13062651	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13071892	0.82[AMR][1000 genomes]
rs13098896	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13256	0.83[AMR][1000 genomes]
rs13315565	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1562464	0.84[EUR][1000 genomes]
rs1599388	0.80[AMR][1000 genomes]
rs16831796	0.84[AMR][1000 genomes]
rs16831886	0.81[AMR][1000 genomes]
rs2014810	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34630898	0.82[AMR][1000 genomes]
rs35914913	0.84[AMR][1000 genomes]
rs4494975	0.80[AMR][1000 genomes]
rs4521287	0.84[AMR][1000 genomes]
rs4679929	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57145341	0.84[AMR][1000 genomes]
rs6441349	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6806015	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68166680	0.82[AMR][1000 genomes]
rs73021215	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73023235	0.80[AMR][1000 genomes]
rs7433918	0.91[AMR][1000 genomes]
rs7610432	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7618455	0.84[AMR][1000 genomes]
rs7618924	0.80[AMR][1000 genomes]
rs7624185	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7628389	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs898677	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs964533	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9812507	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9822435	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9832109	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9857855	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9862086	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9876142	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9880269	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9883566	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12696113	B3GALNT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160726400-160732600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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