Variant report

Variant	rs12543518
Chromosome Location	chr8:34522717-34522718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10107624	0.87[ASN][1000 genomes]
rs10111768	0.89[ASN][1000 genomes]
rs10503965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114700	0.87[ASN][1000 genomes]
rs12543513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545278	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1445184	0.81[ASN][1000 genomes]
rs16882360	0.87[AMR][1000 genomes]
rs16882460	0.88[EUR][1000 genomes]
rs16882701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16882703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1822864	0.84[AMR][1000 genomes]
rs28366982	0.84[AMR][1000 genomes]
rs28540657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28795079	0.87[ASN][1000 genomes]
rs35008961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144954	0.87[ASN][1000 genomes]
rs4237089	0.97[ASN][1000 genomes]
rs4263763	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4304326	0.81[ASN][1000 genomes]
rs4342589	0.81[ASN][1000 genomes]
rs4463416	0.97[ASN][1000 genomes]
rs4584143	0.89[ASN][1000 genomes]
rs4739366	0.88[EUR][1000 genomes]
rs4739580	0.87[ASN][1000 genomes]
rs4739582	0.85[ASN][1000 genomes]
rs4739589	0.89[ASN][1000 genomes]
rs55787309	0.87[ASN][1000 genomes]
rs56091526	0.88[EUR][1000 genomes]
rs56406211	0.87[ASN][1000 genomes]
rs59950658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516829	0.89[ASN][1000 genomes]
rs66892402	0.81[ASN][1000 genomes]
rs6984972	0.87[ASN][1000 genomes]
rs6987004	0.87[AFR][1000 genomes]
rs6991355	0.88[AMR][1000 genomes]
rs7005465	0.86[AFR][1000 genomes]
rs72640929	0.88[EUR][1000 genomes]
rs72640930	0.88[EUR][1000 genomes]
rs72640938	0.88[EUR][1000 genomes]
rs7827353	0.88[AMR][1000 genomes]
rs7833602	0.88[ASN][1000 genomes]
rs7844647	0.97[ASN][1000 genomes]
rs953271	0.97[ASN][1000 genomes]
rs953272	0.90[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	nsv831283	chr8:34501243-34662634	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12543518	RP1-273G13.2	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34522400-34522800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34522600-34523000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:34522600-34523400	Enhancers	Fetal Kidney	kidney
4	chr8:34522600-34524600	Enhancers	HUVEC	blood vessel

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