Variant report

Variant	rs227058
Chromosome Location	chr11:108265213-108265214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs1003623	0.85[EUR][1000 genomes]
rs1003624	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs10431060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431061	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs10789659	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890834	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10890849	0.80[EUR][1000 genomes]
rs11212551	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap]
rs11212579	0.82[EUR][1000 genomes]
rs11212610	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212617	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs11212619	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212635	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212636	0.85[ASN][1000 genomes]
rs11212637	0.85[ASN][1000 genomes]
rs11212638	0.85[ASN][1000 genomes]
rs11212640	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11212659	0.84[EUR][1000 genomes]
rs113995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150203	0.85[EUR][1000 genomes]
rs11605442	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap]
rs12223381	0.87[YRI][hapmap]
rs12792979	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12796446	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12801988	0.81[EUR][1000 genomes]
rs1583598	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1607476	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs170547	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs170548	0.82[JPT][hapmap]
rs172894	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs172895	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172896	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs172927	0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs179109	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183459	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs183460	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs184472	0.89[ASN][1000 genomes]
rs186591	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186592	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186593	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs186594	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186595	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190131	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2028155	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2083707	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2118308	0.90[ASN][1000 genomes]
rs2118309	0.89[CEU][hapmap]
rs227040	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227053	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227055	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs227060	0.82[JPT][hapmap]
rs227061	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227062	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227063	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227064	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227066	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227067	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227068	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227069	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs227070	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227073	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227074	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227075	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227076	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227077	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs227085	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227086	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227088	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227091	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227092	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227093	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227094	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228589	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes]
rs228590	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs228591	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs228592	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs228599	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs228606	0.86[CHB][hapmap]
rs228607	0.83[AMR][1000 genomes]
rs228608	0.85[AMR][1000 genomes]
rs2356801	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs365288	0.83[ASN][1000 genomes]
rs373759	0.82[JPT][hapmap]
rs374443	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3765632	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3901851	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs419716	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425061	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs425538	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4585	0.93[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753842	0.85[ASN][1000 genomes]
rs4754305	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4754318	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4754322	0.90[ASN][1000 genomes]
rs4754324	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4987982	1.00[CEU][hapmap]
rs5023001	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs573890	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs582157	0.82[EUR][1000 genomes]
rs583725	0.85[EUR][1000 genomes]
rs592955	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs595747	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs597788	0.82[JPT][hapmap]
rs599164	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs599406	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs599558	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs600329	0.85[EUR][1000 genomes]
rs600691	0.80[EUR][1000 genomes]
rs600931	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs601111	0.85[EUR][1000 genomes]
rs605394	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs606275	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60639858	0.90[ASN][1000 genomes]
rs60683001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608086	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs609261	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs609429	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609557	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs609655	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611646	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs618499	1.00[CEU][hapmap]
rs61913892	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61915104	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs619972	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs620613	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs621947	0.82[EUR][1000 genomes]
rs623860	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs624366	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs627418	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs634268	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs637064	0.81[EUR][1000 genomes]
rs641605	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs645485	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs647681	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs650128	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs650173	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs652311	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs652541	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654005	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6589018	0.90[ASN][1000 genomes]
rs6589019	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs660429	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662218	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs662578	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664143	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664677	1.00[CEU][hapmap]
rs664982	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs672655	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs672964	0.80[EUR][1000 genomes]
rs673281	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs676729	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs694376	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs694799	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7111091	0.81[ASN][1000 genomes]
rs7112136	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7120845	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7942014	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943063	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7943203	0.93[YRI][hapmap]
rs7943607	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9667658	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv16145	chr11:108256476-108267672	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv556433	chr11:108256837-108265876	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv556434	chr11:108256837-108266855	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv556435	chr11:108256859-108266855	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs227058	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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