Variant report

Variant	rs17009812
Chromosome Location	chr12:83065359-83065360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11115339	0.83[EUR][1000 genomes]
rs11115342	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs11115348	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11115353	0.87[EUR][1000 genomes]
rs11609532	0.92[EUR][1000 genomes]
rs11614435	0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs12296320	0.82[JPT][hapmap]
rs12305736	0.84[EUR][1000 genomes]
rs12307168	0.84[EUR][1000 genomes]
rs12422405	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs12423043	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs17009851	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs17009854	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17009856	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs17009882	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs17009885	0.81[EUR][1000 genomes]
rs17009899	0.85[TSI][hapmap]
rs1922576	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1922577	0.91[JPT][hapmap]
rs1922579	0.91[EUR][1000 genomes]
rs2896436	0.90[JPT][hapmap]
rs4882428	0.84[EUR][1000 genomes]
rs55657485	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56298822	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56396658	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61485473	0.84[EUR][1000 genomes]
rs73354481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74106267	0.84[EUR][1000 genomes]
rs7954021	0.83[EUR][1000 genomes]
rs7961953	1.00[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs7975647	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9805078	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83063400-83067600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83064800-83067600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:83065200-83065600	Enhancers	Brain Substantia Nigra	brain

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