Variant report

Variant	rs1770885
Chromosome Location	chr1:76402212-76402213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10518521	0.80[EUR][1000 genomes]
rs10732723	0.95[CEU][hapmap]
rs10873787	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873788	0.95[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873808	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161620	0.85[CEU][hapmap]
rs11161836	0.95[CEU][hapmap]
rs11161845	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161857	0.95[CEU][hapmap]
rs1146646	0.81[CEU][hapmap]
rs11588578	0.95[CEU][hapmap]
rs1159214	0.89[CEU][hapmap]
rs12090849	1.00[CEU][hapmap]
rs12093623	0.81[CEU][hapmap]
rs12118399	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122939	0.85[CEU][hapmap]
rs1417405	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565717	0.90[CEU][hapmap]
rs1689275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650138	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1770887	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029681	0.85[CEU][hapmap]
rs2029683	0.95[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172507	0.90[CEU][hapmap]
rs4949683	1.00[ASN][1000 genomes]
rs4949686	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs5745336	0.81[CEU][hapmap]
rs5745427	0.89[CEU][hapmap]
rs5745433	0.90[CEU][hapmap]
rs5745442	0.95[CEU][hapmap]
rs5745449	0.94[CEU][hapmap]
rs61770550	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61770556	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61770557	1.00[ASN][1000 genomes]
rs6683437	0.85[CEU][hapmap]
rs6699682	1.00[CEU][hapmap]
rs7523573	0.95[CEU][hapmap]
rs7547056	0.85[CEU][hapmap]
rs931507	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1770885	MSH4	cis	Artery Tibial	GTEx
rs1770885	MSH4	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76402200-76403200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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