Variant report

Variant	rs1586943
Chromosome Location	chr5:112686205-112686206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10077020	0.86[ASN][1000 genomes]
rs10428666	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10900685	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1116547	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241201	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241206	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241209	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738075	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738215	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741916	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11741963	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11744606	0.81[EUR][1000 genomes]
rs11746821	0.81[EUR][1000 genomes]
rs11748503	0.96[ASN][1000 genomes]
rs11750945	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12152879	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514091	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12516418	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12518849	0.81[EUR][1000 genomes]
rs12519753	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519818	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12520003	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12523255	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360719	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1443683	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1517209	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135488	0.81[EUR][1000 genomes]
rs17135597	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135608	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135616	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17135630	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1838208	0.86[ASN][1000 genomes]
rs1850410	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2068923	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3846721	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705807	0.81[EUR][1000 genomes]
rs4705808	0.81[EUR][1000 genomes]
rs4705809	0.81[EUR][1000 genomes]
rs4705814	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705817	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705818	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705819	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59954246	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62374372	0.94[ASN][1000 genomes]
rs66502937	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66583752	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66644309	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66728961	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67268709	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67303814	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67764628	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861786	0.86[ASN][1000 genomes]
rs6864528	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6877524	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6879800	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6882900	0.86[ASN][1000 genomes]
rs6887565	0.81[EUR][1000 genomes]
rs6888602	0.82[EUR][1000 genomes]
rs72792179	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73236478	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73236479	0.94[ASN][1000 genomes]
rs7707443	0.86[ASN][1000 genomes]
rs7717000	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7724707	0.81[EUR][1000 genomes]
rs7724717	0.81[EUR][1000 genomes]
rs7724936	0.81[EUR][1000 genomes]
rs9800316	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112682000-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112682400-112689400	Weak transcription	HMEC	breast
4	chr5:112685200-112689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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