Variant report

Variant	rs4088520
Chromosome Location	chr13:54441906-54441907
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	chr13:54411879..54413790-chr13:54440349..54442010,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1379827	0.92[EUR][1000 genomes]
rs1379831	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1379832	0.97[EUR][1000 genomes]
rs1379833	0.97[EUR][1000 genomes]
rs1458268	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1545659	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1971924	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1977889	0.97[EUR][1000 genomes]
rs1977890	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4884722	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7334923	0.87[EUR][1000 genomes]
rs7983436	0.84[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs7995039	0.84[EUR][1000 genomes]
rs9316660	0.80[EUR][1000 genomes]
rs9536557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9563174	0.80[EUR][1000 genomes]
rs9563182	0.93[EUR][1000 genomes]
rs9563183	0.91[EUR][1000 genomes]
rs9568906	0.80[EUR][1000 genomes]
rs9568907	0.80[EUR][1000 genomes]
rs9568917	0.80[EUR][1000 genomes]
rs9568919	0.80[EUR][1000 genomes]
rs9568920	0.80[EUR][1000 genomes]
rs9568923	0.80[EUR][1000 genomes]
rs9568935	0.93[EUR][1000 genomes]
rs9568943	0.95[EUR][1000 genomes]
rs9568948	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9591536	0.83[EUR][1000 genomes]
rs9596858	0.97[EUR][1000 genomes]
rs9596862	0.97[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	nsv1044137	chr13:54124103-54521120	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv541777	chr13:54124103-54521120	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv427931	chr13:54352943-54543848	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv519254	chr13:54414564-54442809	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv900093	chr13:54414564-54594292	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv561699	chr13:54433190-54483253	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv976237	chr13:54437958-54444995	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54440800-54445200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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