Variant report

Variant	rs4508369
Chromosome Location	chr14:70294325-70294326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10498531	0.81[AMR][1000 genomes]
rs11844140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2094273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2094274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2182521	0.82[EUR][1000 genomes]
rs4293310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55702672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55813576	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56011122	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56019785	0.87[AMR][1000 genomes]
rs61982146	0.84[EUR][1000 genomes]
rs61982148	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61982149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61983461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61983462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61983464	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61983474	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61983475	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983476	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61983519	0.87[AMR][1000 genomes]
rs61983520	0.87[AMR][1000 genomes]
rs7157732	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72725783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72725796	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72725797	0.90[AMR][1000 genomes];0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3373522	chr14:70293699-70297897	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70293600-70295400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:70293600-70295400	Enhancers	NHEK	skin
3	chr14:70293800-70295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70294200-70294400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:70294200-70295200	Enhancers	HMEC	breast
6	chr14:70294200-70295400	Enhancers	Hela-S3	cervix

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