Variant report

Variant	rs58512371
Chromosome Location	chr5:59643513-59643514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10514893	0.96[EUR][1000 genomes]
rs10514894	0.96[EUR][1000 genomes]
rs16877933	0.96[EUR][1000 genomes]
rs16877936	0.96[EUR][1000 genomes]
rs16877964	0.96[EUR][1000 genomes]
rs16877967	0.96[EUR][1000 genomes]
rs16878035	0.89[EUR][1000 genomes]
rs16878037	0.89[EUR][1000 genomes]
rs16878086	0.89[EUR][1000 genomes]
rs17326404	0.96[EUR][1000 genomes]
rs17378750	0.96[EUR][1000 genomes]
rs1862589	0.89[EUR][1000 genomes]
rs4130444	0.84[EUR][1000 genomes]
rs4580738	0.84[EUR][1000 genomes]
rs55952213	0.92[EUR][1000 genomes]
rs56151644	0.89[EUR][1000 genomes]
rs56217581	0.89[EUR][1000 genomes]
rs56247947	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56262275	1.00[EUR][1000 genomes]
rs57177718	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58376959	0.89[EUR][1000 genomes]
rs58594585	0.96[EUR][1000 genomes]
rs58704174	1.00[EUR][1000 genomes]
rs58891299	0.89[EUR][1000 genomes]
rs59014679	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59576667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59578756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60104228	0.89[EUR][1000 genomes]
rs60962155	0.96[EUR][1000 genomes]
rs61474228	0.96[EUR][1000 genomes]
rs6865762	0.99[ASN][1000 genomes]
rs6881782	0.96[EUR][1000 genomes]
rs6886423	0.96[EUR][1000 genomes]
rs73106775	0.99[ASN][1000 genomes]
rs73106780	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73106781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73108627	1.00[EUR][1000 genomes]
rs73108631	1.00[EUR][1000 genomes]
rs73759052	0.89[EUR][1000 genomes]
rs73759053	0.89[EUR][1000 genomes]
rs7702188	0.96[EUR][1000 genomes]
rs7707365	0.99[ASN][1000 genomes]
rs7725629	0.89[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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59637800-59643600	Weak transcription	Aorta	Aorta
3	chr5:59638000-59649400	Weak transcription	Fetal Brain Female	brain
4	chr5:59640400-59644600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:59643000-59650000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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