Variant report

Variant	rs2490448
Chromosome Location	chr6:12564004-12564005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10046276	1.00[EUR][1000 genomes]
rs11750980	1.00[EUR][1000 genomes]
rs11966877	1.00[EUR][1000 genomes]
rs12332919	1.00[EUR][1000 genomes]
rs1334306	1.00[EUR][1000 genomes]
rs1334307	1.00[EUR][1000 genomes]
rs2490446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490450	1.00[EUR][1000 genomes]
rs2490451	1.00[EUR][1000 genomes]
rs2504866	1.00[EUR][1000 genomes]
rs2504889	1.00[EUR][1000 genomes]
rs2504893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2504896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516229	1.00[EUR][1000 genomes]
rs2516230	1.00[EUR][1000 genomes]
rs2516236	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2516237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57317303	1.00[EUR][1000 genomes]
rs59901827	1.00[EUR][1000 genomes]
rs60493852	1.00[EUR][1000 genomes]
rs60501074	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6458322	1.00[EUR][1000 genomes]
rs6900340	1.00[EUR][1000 genomes]
rs6916851	1.00[EUR][1000 genomes]
rs6928058	1.00[EUR][1000 genomes]
rs6933484	1.00[EUR][1000 genomes]
rs73356106	1.00[EUR][1000 genomes]
rs73356116	1.00[EUR][1000 genomes]
rs73356122	1.00[EUR][1000 genomes]
rs73356124	1.00[EUR][1000 genomes]
rs73722796	1.00[EUR][1000 genomes]
rs7738584	1.00[EUR][1000 genomes]
rs9462819	1.00[EUR][1000 genomes]
rs9462825	1.00[EUR][1000 genomes]
rs9462830	1.00[EUR][1000 genomes]
rs9462834	1.00[EUR][1000 genomes]
rs9471867	1.00[EUR][1000 genomes]
rs9471922	1.00[EUR][1000 genomes]
rs9471924	1.00[EUR][1000 genomes]
rs9472012	1.00[EUR][1000 genomes]
rs9472013	1.00[EUR][1000 genomes]
rs9472037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472123	1.00[EUR][1000 genomes]
rs9472198	1.00[EUR][1000 genomes]
rs9717503	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12555800-12569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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