Variant report

Variant	rs12547804
Chromosome Location	chr8:20214592-20214593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10503678	0.95[EUR][1000 genomes]
rs11204110	0.97[EUR][1000 genomes]
rs11204111	0.91[EUR][1000 genomes]
rs12541135	0.94[EUR][1000 genomes]
rs12543131	0.95[EUR][1000 genomes]
rs12543855	0.95[EUR][1000 genomes]
rs12544052	0.92[EUR][1000 genomes]
rs12544080	0.92[EUR][1000 genomes]
rs12544394	0.95[EUR][1000 genomes]
rs12549080	0.92[EUR][1000 genomes]
rs12550451	0.95[EUR][1000 genomes]
rs12681197	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681832	0.91[EUR][1000 genomes]
rs13249689	0.97[EUR][1000 genomes]
rs13278066	0.95[EUR][1000 genomes]
rs1872346	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062347	0.97[EUR][1000 genomes]
rs2062348	0.97[EUR][1000 genomes]
rs2410641	0.91[EUR][1000 genomes]
rs2410643	0.96[EUR][1000 genomes]
rs34368954	0.97[EUR][1000 genomes]
rs34393111	0.92[EUR][1000 genomes]
rs34738114	0.97[EUR][1000 genomes]
rs35102761	0.95[EUR][1000 genomes]
rs35267049	0.92[EUR][1000 genomes]
rs35851624	0.97[EUR][1000 genomes]
rs3892686	0.82[EUR][1000 genomes]
rs4269558	0.93[EUR][1000 genomes]
rs4376510	0.97[EUR][1000 genomes]
rs4397421	0.97[EUR][1000 genomes]
rs4397422	0.97[EUR][1000 genomes]
rs4442161	0.90[EUR][1000 genomes]
rs4493920	0.92[EUR][1000 genomes]
rs4921704	0.92[EUR][1000 genomes]
rs4921705	0.92[EUR][1000 genomes]
rs4921706	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922163	0.92[EUR][1000 genomes]
rs4922164	0.90[EUR][1000 genomes]
rs4922167	0.95[EUR][1000 genomes]
rs4922168	0.95[EUR][1000 genomes]
rs4922169	0.91[EUR][1000 genomes]
rs4922170	0.94[EUR][1000 genomes]
rs4922171	0.95[EUR][1000 genomes]
rs4922172	0.95[EUR][1000 genomes]
rs4922173	0.82[EUR][1000 genomes]
rs4922176	0.92[EUR][1000 genomes]
rs57421611	0.94[EUR][1000 genomes]
rs6586911	0.82[EUR][1000 genomes]
rs66866121	0.95[EUR][1000 genomes]
rs900954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs900955	0.97[EUR][1000 genomes]
rs9650601	0.91[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20208400-20215600	Weak transcription	Fetal Brain Male	brain
2	chr8:20212600-20217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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