Variant report

Variant	rs6791597
Chromosome Location	chr3:180298478-180298479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11713314	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13327745	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2133007	0.86[AMR][1000 genomes]
rs28595523	0.91[GIH][hapmap];0.83[YRI][hapmap]
rs28722789	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4519701	0.80[CEU][hapmap]
rs56406114	0.95[AMR][1000 genomes]
rs57668336	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62291047	0.95[EUR][1000 genomes]
rs6443696	0.86[GIH][hapmap];0.83[YRI][hapmap]
rs6443700	0.88[GIH][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6443701	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7611683	0.81[AFR][1000 genomes]
rs7627008	0.92[AFR][1000 genomes]
rs7633153	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7633440	0.81[AFR][1000 genomes]
rs7636793	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7637098	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7645817	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7647003	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7647210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7650672	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs904241	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9832393	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9851773	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3359190	chr3:180298396-180397223	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6791597	IGF2BP2	cis	parietal	SCAN
rs6791597	TTC14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180297200-180312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:180298000-180309800	Weak transcription	Brain Anterior Caudate	brain

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