Variant report

Variant	rs6538043
Chromosome Location	chr12:86860596-86860597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10745415	0.83[CEU][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776958	0.81[EUR][1000 genomes]
rs10776967	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858417	0.81[EUR][1000 genomes]
rs10858420	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858429	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11103946	0.83[EUR][1000 genomes]
rs1922745	0.84[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406120	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406142	0.83[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406156	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406159	0.83[CEU][hapmap]
rs4300451	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4351884	0.84[CEU][hapmap]
rs4612887	0.84[CEU][hapmap]
rs4842512	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538044	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302391	0.83[CEU][hapmap]
rs7316265	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7954833	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954883	0.83[CEU][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966656	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967529	0.84[CEU][hapmap]

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	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899395	chr12:86813367-87177972	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6538043	MGAT4C	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86859000-86862400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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