Variant report

Variant	rs227054
Chromosome Location	chr11:108257943-108257944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108257377..108260799-chr11:108261065..108264085,3	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1003623	0.82[EUR][1000 genomes]
rs1003624	0.82[EUR][1000 genomes]
rs10431060	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10431061	0.87[ASN][1000 genomes]
rs10789659	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890849	0.83[EUR][1000 genomes]
rs11212610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11212619	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212635	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212640	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212659	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11212661	0.81[AMR][1000 genomes]
rs113995	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1150203	0.82[EUR][1000 genomes]
rs12272183	0.82[AMR][1000 genomes]
rs12792979	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12796446	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12801988	0.84[EUR][1000 genomes]
rs1583598	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1607476	0.83[AMR][1000 genomes]
rs170547	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172895	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179109	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183459	0.88[AMR][1000 genomes]
rs184472	0.87[ASN][1000 genomes]
rs186591	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs186592	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs186594	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs186595	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1893813	0.81[AMR][1000 genomes]
rs190131	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2028155	0.84[ASN][1000 genomes]
rs2056267	0.82[AMR][1000 genomes]
rs2083707	0.84[AMR][1000 genomes]
rs2118308	0.85[ASN][1000 genomes]
rs227040	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227041	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227053	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs227061	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227062	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227063	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227064	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227066	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227067	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227068	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227070	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227072	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227073	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227074	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227075	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227076	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227077	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227085	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227086	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227087	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227088	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227091	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227092	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227093	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227094	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228588	0.86[AMR][1000 genomes]
rs228594	0.81[AMR][1000 genomes]
rs228599	0.84[AMR][1000 genomes]
rs228607	0.89[AMR][1000 genomes]
rs228608	0.81[AMR][1000 genomes]
rs35352778	0.82[AMR][1000 genomes]
rs365288	0.81[ASN][1000 genomes]
rs374443	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765632	0.88[EUR][1000 genomes]
rs3901851	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs419716	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs425061	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs425538	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4585	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754318	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4754322	0.85[ASN][1000 genomes]
rs4754324	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4987982	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5023001	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs573890	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs583725	0.82[EUR][1000 genomes]
rs592955	0.80[EUR][1000 genomes]
rs594153	0.84[AMR][1000 genomes]
rs595747	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs599164	0.87[AMR][1000 genomes]
rs599558	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs600329	0.82[EUR][1000 genomes]
rs601111	0.82[EUR][1000 genomes]
rs605394	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606275	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60639858	0.85[ASN][1000 genomes]
rs60683001	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs608086	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs609261	0.82[EUR][1000 genomes]
rs609429	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs609655	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618499	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61913892	0.86[EUR][1000 genomes]
rs61915104	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs619972	0.82[EUR][1000 genomes]
rs620613	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs621947	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs624366	0.82[EUR][1000 genomes]
rs624852	0.83[AMR][1000 genomes]
rs627418	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs634268	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs641312	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs642496	0.81[EUR][1000 genomes]
rs645485	0.82[EUR][1000 genomes]
rs647681	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs650128	0.83[EUR][1000 genomes]
rs650173	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs652311	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs652541	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs654005	0.82[EUR][1000 genomes]
rs6589018	0.85[ASN][1000 genomes]
rs660429	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs661467	0.83[AMR][1000 genomes]
rs662218	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs662578	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664143	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664677	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs664982	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs673281	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs676729	0.83[EUR][1000 genomes]
rs694376	0.88[AMR][1000 genomes]
rs7112136	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118967	0.81[AMR][1000 genomes]
rs7120845	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931930	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7942014	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7943063	0.80[ASN][1000 genomes]
rs7943607	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9667658	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv1828790	chr11:108257521-108264978	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs227054	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108239600-108260800	Weak transcription	Brain Hippocampus Middle	brain

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