Variant report

Variant	rs59531479
Chromosome Location	chr8:61391865-61391866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61390369..61392056-chr8:61395444..61397450,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16926265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	1.00[EUR][1000 genomes]
rs58916286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	1.00[EUR][1000 genomes]
rs73259441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61390600-61392200	Enhancers	Hela-S3	cervix
2	chr8:61390600-61394400	Enhancers	Placenta	Placenta
3	chr8:61391000-61392200	Enhancers	NHEK	skin
4	chr8:61391000-61393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:61391000-61394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:61391200-61392800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:61391200-61396000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:61391400-61392800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:61391800-61392800	Weak transcription	HMEC	breast

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