Variant report

Variant	rs55664953
Chromosome Location	chr1:219973009-219973010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11118426	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118427	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118428	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118429	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118430	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118431	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11803657	0.85[AFR][1000 genomes]
rs11805110	0.85[AFR][1000 genomes]
rs11808330	0.85[AFR][1000 genomes]
rs12080869	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12082170	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12083182	0.81[EUR][1000 genomes]
rs12089488	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12095559	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13375416	0.90[AFR][1000 genomes]
rs17006687	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17551179	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378324	0.90[AFR][1000 genomes]
rs55712001	0.94[AFR][1000 genomes]
rs55740390	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55800251	0.85[AFR][1000 genomes]
rs55920559	0.85[AFR][1000 genomes]
rs55981027	0.87[AFR][1000 genomes]
rs56073293	0.85[AFR][1000 genomes]
rs56088885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60659404	0.90[AFR][1000 genomes]
rs6672682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676773	0.90[AFR][1000 genomes]
rs6686864	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687322	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72738745	0.90[AFR][1000 genomes]
rs72738748	0.90[AFR][1000 genomes]
rs72738750	0.85[AFR][1000 genomes]
rs72738751	0.85[AFR][1000 genomes]
rs72738754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738777	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72738783	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7527063	0.85[ASN][1000 genomes]
rs7533484	0.87[AFR][1000 genomes]
rs7535834	0.90[AFR][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv947518	chr1:219967913-219974435	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:219966400-219980200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:219970200-219975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:219970600-219974000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:219971000-219973600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:219971600-219974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:219972200-219985600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:219972800-219974200	Weak transcription	NHLF	lung
8	chr1:219973000-219973400	Weak transcription	NHDF-Ad	bronchial

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