Variant report

Variant	rs5023001
Chromosome Location	chr11:108335538-108335539
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108333493..108335772-chr11:108366230..108368651,2	MCF-7	breast:
2	chr11:108249366..108252205-chr11:108334499..108338160,3	K562	blood:
3	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
4	chr11:108327992..108330952-chr11:108334395..108336198,2	K562	blood:
5	chr11:108092963..108094559-chr11:108335531..108338245,2	K562	blood:
6	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
7	chr11:108333831..108335607-chr11:108336969..108339271,2	MCF-7	breast:
8	chr11:108335455..108337669-chr11:108500800..108503304,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1003624	1.00[CEU][hapmap]
rs10431060	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431061	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10789659	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890834	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10890849	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11212610	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212617	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs11212619	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212635	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11212636	0.84[ASN][1000 genomes]
rs11212637	0.84[ASN][1000 genomes]
rs11212638	0.84[ASN][1000 genomes]
rs11212640	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212659	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212661	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs113995	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12792979	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796446	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801988	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1583598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170547	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs170548	0.82[JPT][hapmap]
rs172894	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs172895	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs172896	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs179109	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186592	0.84[ASN][1000 genomes]
rs186593	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs186594	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186595	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2118308	0.90[ASN][1000 genomes]
rs2118309	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs227040	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227041	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227053	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227054	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227055	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs227058	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs227060	0.82[JPT][hapmap]
rs227061	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227062	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227063	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs227064	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227066	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227067	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227068	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227069	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs227070	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227072	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227073	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227074	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227075	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227076	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227077	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227085	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227086	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227087	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs227088	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227091	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227092	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227093	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227094	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228599	0.81[AFR][1000 genomes]
rs2356801	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs373759	0.82[JPT][hapmap]
rs374443	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3765632	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3901851	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs419716	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs425061	0.84[ASN][1000 genomes]
rs425538	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4585	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4753842	0.84[ASN][1000 genomes]
rs4754318	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754322	0.90[ASN][1000 genomes]
rs4754324	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4987982	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs573890	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592955	1.00[CEU][hapmap]
rs595747	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs597788	0.82[JPT][hapmap]
rs599164	0.83[AFR][1000 genomes]
rs599558	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs605394	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60639858	0.90[ASN][1000 genomes]
rs60683001	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs609261	1.00[CEU][hapmap]
rs609429	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs609655	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs611646	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs618499	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs61913892	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61915104	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619972	1.00[CEU][hapmap]
rs620613	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs624366	1.00[CEU][hapmap]
rs627418	0.81[AFR][1000 genomes]
rs641312	0.83[AFR][1000 genomes]
rs645485	1.00[CEU][hapmap]
rs647681	0.86[AFR][1000 genomes]
rs652311	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652541	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs654005	1.00[CEU][hapmap]
rs6589018	0.90[ASN][1000 genomes]
rs6589019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs660429	1.00[CEU][hapmap]
rs662218	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs662578	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs664143	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664677	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs664982	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs673281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7111091	0.81[ASN][1000 genomes]
rs7112136	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120845	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7126588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7931930	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7942014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943063	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7943607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9667658	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5023001	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108333400-108336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:108334400-108337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:108335400-108335600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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