Variant report

Variant	rs7769051
Chromosome Location	chr6:133146796-133146797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10457596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10484629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11962883	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11964512	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12193474	0.82[MEX][hapmap]
rs12198849	0.94[ASN][1000 genomes]
rs12203977	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204027	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12211701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467403	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1467404	1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3813347	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56148066	0.81[ASN][1000 genomes]
rs58832890	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61421874	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62424539	0.94[ASN][1000 genomes]
rs6569847	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569848	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569852	0.89[YRI][hapmap]
rs6910639	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6912936	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6915168	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6930703	0.85[ASW][hapmap];0.89[YRI][hapmap]
rs6934161	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73554431	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7738071	1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7738400	1.00[JPT][hapmap]
rs7758703	1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7761365	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7762248	0.85[ASW][hapmap];0.81[YRI][hapmap]
rs7765224	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770081	1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321367	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9321371	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321375	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs9399041	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9483514	0.81[ASN][1000 genomes]
rs9493435	1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493436	1.00[JPT][hapmap]
rs9493437	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493438	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493443	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493444	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493446	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes nephropathy	21150874	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7769051	C6orf192	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133140800-133153800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:133141400-133151800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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