Variant report

Variant	rs12989141
Chromosome Location	chr2:73059116-73059117
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10211019	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027848	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10496186	0.91[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs10865393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11126385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1161265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs1161266	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1161267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11677707	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11684985	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685114	1.00[CHB][hapmap]
rs11894160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12474728	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12622275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12713774	1.00[ASN][1000 genomes]
rs12713775	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12996406	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13006497	1.00[CHB][hapmap]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13035731	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1396106	0.85[EUR][1000 genomes]
rs1446887	1.00[CHB][hapmap]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[ASN][1000 genomes]
rs1446893	1.00[ASN][1000 genomes]
rs1446895	1.00[ASN][1000 genomes]
rs1446896	1.00[CHB][hapmap]
rs1508061	1.00[CHB][hapmap]
rs1567230	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1992799	1.00[ASN][1000 genomes]
rs1995734	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048170	0.93[EUR][1000 genomes]
rs2048171	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135985	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420565	1.00[ASN][1000 genomes]
rs2420880	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420881	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2420883	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4321391	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852293	1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852880	1.00[ASN][1000 genomes]
rs4852886	1.00[CHB][hapmap]
rs4852888	1.00[CHB][hapmap]
rs4852889	1.00[CHB][hapmap]
rs4852890	1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852902	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546776	1.00[ASN][1000 genomes]
rs6546777	1.00[ASN][1000 genomes]
rs6546778	1.00[ASN][1000 genomes]
rs6546779	1.00[ASN][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546786	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546788	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546790	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546791	0.94[EUR][1000 genomes]
rs6546792	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6724529	1.00[CHB][hapmap]
rs6730083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs6739002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs6750740	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758431	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6758542	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7420391	1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7580268	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586787	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591025	1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7592155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598238	1.00[ASN][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[ASN][1000 genomes]
rs7603797	1.00[ASN][1000 genomes]
rs925146	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs925147	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs925148	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs970577	0.94[YRI][hapmap]
rs990569	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12989141	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73053600-73060000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:73057600-73060400	Weak transcription	Placenta	Placenta

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