Variant report

Variant	rs829133
Chromosome Location	chr12:51250073-51250074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10735827	0.83[JPT][hapmap]
rs10747592	0.84[JPT][hapmap]
rs10783388	0.83[JPT][hapmap]
rs10783390	0.81[JPT][hapmap]
rs10783407	0.83[EUR][1000 genomes]
rs10876082	0.83[JPT][hapmap]
rs10876108	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1096033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096034	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs11169551	0.83[JPT][hapmap]
rs11169591	0.81[ASN][1000 genomes]
rs1421435	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1521515	0.83[JPT][hapmap]
rs1561422	0.83[JPT][hapmap]
rs2160979	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2243560	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2359005	0.86[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2359006	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2554853	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4638364	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768868	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768931	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4768933	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4768934	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6580767	0.83[JPT][hapmap]
rs6580768	0.83[JPT][hapmap]
rs6580770	0.83[JPT][hapmap]
rs6580774	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7137881	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7303452	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7311916	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7957410	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs7957749	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7959129	0.84[JPT][hapmap]
rs7979474	0.83[JPT][hapmap]
rs829125	0.83[JPT][hapmap]
rs829140	0.86[EUR][1000 genomes]
rs861204	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs829133	ATF1	cis	Whole Blood	GTEx
rs829133	DIP2B	cis	multi-tissue	Pritchard
rs829133	KIAA1463	cis	multi-tissue	Pritchard

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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