Variant report

Variant	rs12816683
Chromosome Location	chr12:33076654-33076655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12811328	1.00[AMR][1000 genomes]
rs12827254	1.00[AMR][1000 genomes]
rs12827744	1.00[AMR][1000 genomes]
rs12827864	0.83[AMR][1000 genomes]
rs12830581	1.00[AMR][1000 genomes]
rs17553487	1.00[AMR][1000 genomes]
rs17623138	0.83[AMR][1000 genomes]
rs34018607	1.00[AMR][1000 genomes]
rs34113579	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34202049	1.00[AMR][1000 genomes]
rs34234620	1.00[AMR][1000 genomes]
rs34398102	1.00[AMR][1000 genomes]
rs34506464	1.00[AMR][1000 genomes]
rs34942504	1.00[AMR][1000 genomes]
rs35118163	0.83[AMR][1000 genomes]
rs35285975	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35398283	1.00[AMR][1000 genomes]
rs35399277	0.83[AMR][1000 genomes]
rs35522863	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35607659	1.00[AMR][1000 genomes]
rs35681913	1.00[AMR][1000 genomes]
rs35687751	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35760728	1.00[AMR][1000 genomes]
rs35848741	1.00[AMR][1000 genomes]
rs35895521	0.83[AMR][1000 genomes]
rs35942647	1.00[AMR][1000 genomes]
rs36042953	1.00[AMR][1000 genomes]
rs4076733	1.00[AMR][1000 genomes]
rs71457664	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71457666	0.83[AMR][1000 genomes]
rs71457669	1.00[AMR][1000 genomes]
rs71457671	1.00[AMR][1000 genomes]
rs71457675	1.00[AMR][1000 genomes]
rs71457678	1.00[AMR][1000 genomes]
rs71457684	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:33076200-33079000	Weak transcription	NHEK	skin
2	chr12:33076200-33079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:33076400-33078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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