Variant report

Variant	rs12537793
Chromosome Location	chr7:78616461-78616462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10224582	0.82[CEU][hapmap]
rs10224972	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs10226001	0.91[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10231279	0.82[CEU][hapmap];0.85[CHD][hapmap]
rs10240536	0.82[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap]
rs10259881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs10269689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs10277798	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10485926	0.83[CHB][hapmap]
rs10808175	0.85[ASN][1000 genomes]
rs11769552	0.82[EUR][1000 genomes]
rs12534480	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12536821	0.91[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs12539532	0.91[CEU][hapmap];0.95[TSI][hapmap]
rs12540925	0.87[CEU][hapmap]
rs12669763	0.85[ASN][1000 genomes]
rs12705859	0.91[CEU][hapmap];0.84[TSI][hapmap]
rs12705860	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs13438061	0.83[CHB][hapmap]
rs13438576	0.83[CHB][hapmap]
rs1476106	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs2079955	0.83[EUR][1000 genomes]
rs2098180	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2098181	0.83[EUR][1000 genomes]
rs2159687	0.91[CEU][hapmap];0.98[TSI][hapmap]
rs2191724	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2191726	0.82[EUR][1000 genomes]
rs2191727	0.82[EUR][1000 genomes]
rs2191728	0.82[EUR][1000 genomes]
rs2215546	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2215547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2363930	0.82[EUR][1000 genomes]
rs2363931	0.83[EUR][1000 genomes]
rs28572181	0.83[EUR][1000 genomes]
rs28716458	0.83[EUR][1000 genomes]
rs4507689	0.81[EUR][1000 genomes]
rs4727794	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs4727796	0.91[CEU][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs4730596	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs4730597	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs4730619	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs5004248	0.91[CEU][hapmap]
rs6466468	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6466477	0.82[EUR][1000 genomes]
rs6952133	0.90[EUR][1000 genomes]
rs6964007	0.95[CEU][hapmap]
rs763593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7791770	0.86[EUR][1000 genomes]
rs7792974	0.91[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs7793390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.99[ASN][1000 genomes]
rs7809089	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs9656215	0.96[ASN][1000 genomes]
rs9691529	0.83[CEU][hapmap]
rs9692247	0.83[CHB][hapmap]
rs984312	0.91[CEU][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs987436	0.91[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12537793	MDH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78614000-78632400	Weak transcription	Aorta	Aorta

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