Variant report

Variant	rs12485184
Chromosome Location	chr22:33637589-33637590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12484183	1.00[AFR][1000 genomes]
rs137459	0.91[AMR][1000 genomes]
rs137460	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs137464	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs137465	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs137466	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs137476	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs137477	0.93[EUR][1000 genomes]
rs137481	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56904467	1.00[AFR][1000 genomes]
rs56951294	1.00[AFR][1000 genomes]
rs59005836	1.00[AFR][1000 genomes]
rs73881975	1.00[AFR][1000 genomes]
rs73881976	1.00[AFR][1000 genomes]
rs73881977	1.00[AFR][1000 genomes]
rs73881983	1.00[AFR][1000 genomes]
rs73881985	1.00[AFR][1000 genomes]
rs73881986	1.00[AFR][1000 genomes]
rs73881988	1.00[AFR][1000 genomes]
rs73881996	1.00[AFR][1000 genomes]
rs73881998	1.00[AFR][1000 genomes]
rs73881999	1.00[AFR][1000 genomes]
rs73882000	1.00[AFR][1000 genomes]
rs73882002	1.00[AFR][1000 genomes]
rs73885003	1.00[AFR][1000 genomes]
rs73885005	1.00[AFR][1000 genomes]
rs73885008	1.00[AFR][1000 genomes]
rs73885016	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1056019	chr22:33527873-33657289	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065926	chr22:33602852-33658189	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv544681	chr22:33602852-33658189	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33636400-33639200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:33636400-33640000	Enhancers	NHEK	skin
3	chr22:33636600-33639800	Enhancers	HMEC	breast
4	chr22:33636800-33639200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:33636800-33639800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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