Variant report

Variant	rs10858420
Chromosome Location	chr12:86765362-86765363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10745415	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745421	1.00[CHB][hapmap]
rs10776954	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10776958	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10776960	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10776967	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776975	0.94[CEU][hapmap]
rs10858409	0.86[EUR][1000 genomes]
rs10858411	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10858412	0.83[CEU][hapmap]
rs10858417	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10858424	1.00[CHB][hapmap]
rs10858429	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11103946	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12372566	1.00[CHB][hapmap]
rs1389292	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1389294	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1389295	0.89[EUR][1000 genomes]
rs1463750	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1493413	0.93[EUR][1000 genomes]
rs1493414	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493417	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1493418	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1532263	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1628799	0.88[CEU][hapmap]
rs1689364	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1922745	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994863	0.87[EUR][1000 genomes]
rs2141925	0.84[CEU][hapmap]
rs2178748	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs2405797	0.83[CEU][hapmap]
rs2405932	0.88[CEU][hapmap]
rs2405934	0.83[CEU][hapmap]
rs2406120	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406121	0.92[EUR][1000 genomes]
rs2406128	0.84[CEU][hapmap]
rs2406142	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406156	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406159	1.00[CHB][hapmap]
rs2452803	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2452805	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2452808	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465142	0.89[EUR][1000 genomes]
rs2465145	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2465148	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471565	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2471567	0.89[EUR][1000 genomes]
rs2897269	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs2897273	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs4300451	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329741	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4351884	1.00[CHB][hapmap]
rs4444151	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs4612887	1.00[CHB][hapmap]
rs4842512	1.00[ASN][1000 genomes]
rs6538023	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6538027	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs6538040	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs6538043	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538044	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134045	0.88[CEU][hapmap]
rs7134944	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7302391	1.00[CHB][hapmap]
rs7303642	0.92[EUR][1000 genomes]
rs7309839	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs7312245	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs7316265	0.81[EUR][1000 genomes]
rs7953494	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7954833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954883	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963957	0.86[EUR][1000 genomes]
rs7966656	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967529	1.00[CHB][hapmap]
rs7972185	1.00[CEU][hapmap]
rs7975314	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs839099	1.00[CHB][hapmap]
rs839100	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs839106	1.00[CHB][hapmap]
rs839107	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs839109	1.00[CHB][hapmap]
rs839162	0.83[CEU][hapmap]
rs844433	0.89[CEU][hapmap]
rs858213	0.89[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053234	chr12:86701070-86774957	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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
5	nsv1041126	chr12:86736601-86774957	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv1051494	chr12:86736601-86776021	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10858420	MGAT4C	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86761400-86769600	Weak transcription	Fetal Heart	heart

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