Variant report

Variant	rs2178748
Chromosome Location	chr12:86840865-86840866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10745415	1.00[CHB][hapmap];0.91[MEX][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745418	1.00[YRI][hapmap]
rs10745421	1.00[CHB][hapmap]
rs10745422	1.00[YRI][hapmap]
rs10776954	0.91[EUR][1000 genomes]
rs10776958	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10776960	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10776967	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776975	1.00[CEU][hapmap]
rs10858409	0.82[EUR][1000 genomes]
rs10858411	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs10858412	0.96[TSI][hapmap]
rs10858417	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10858420	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858424	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10858429	1.00[CHB][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11103946	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12372566	1.00[CHB][hapmap]
rs1389294	0.90[EUR][1000 genomes]
rs1389295	0.85[EUR][1000 genomes]
rs1493413	0.90[EUR][1000 genomes]
rs1493414	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493417	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1493418	0.89[EUR][1000 genomes]
rs1922745	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141925	0.88[CEU][hapmap]
rs2405797	0.88[CEU][hapmap];1.00[TSI][hapmap]
rs2405932	0.80[CEU][hapmap]
rs2405934	1.00[TSI][hapmap]
rs2406120	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406121	0.88[EUR][1000 genomes]
rs2406142	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406156	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406159	1.00[CHB][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs2452803	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2452805	0.90[EUR][1000 genomes]
rs2452808	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465142	0.85[EUR][1000 genomes]
rs2465145	0.91[EUR][1000 genomes]
rs2465148	0.91[EUR][1000 genomes]
rs2471567	0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2897269	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2897273	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs4300451	1.00[CHB][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329741	0.91[EUR][1000 genomes]
rs4351884	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4444151	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4612887	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4842512	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538027	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6538040	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6538043	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538044	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134045	0.81[CEU][hapmap];1.00[TSI][hapmap]
rs7134944	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7302391	1.00[CHB][hapmap]
rs7303642	0.88[EUR][1000 genomes]
rs7309839	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7312245	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7316265	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7953494	0.91[EUR][1000 genomes]
rs7954833	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954883	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956413	1.00[YRI][hapmap]
rs7963957	0.82[EUR][1000 genomes]
rs7966656	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967529	1.00[CHB][hapmap]
rs7972185	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7975314	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][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
rs2178748	MGAT4C	cis	Heart Left Ventricle	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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