Variant report

Variant	rs605394
Chromosome Location	chr11:108243628-108243629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1003623	0.83[EUR][1000 genomes]
rs1003624	0.83[EUR][1000 genomes]
rs10431060	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431061	0.85[ASN][1000 genomes]
rs10789659	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890849	0.84[EUR][1000 genomes]
rs11212579	0.80[EUR][1000 genomes]
rs11212610	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212619	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11212635	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212640	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11212659	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11212661	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs113995	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1150203	0.83[EUR][1000 genomes]
rs12792979	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12796446	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12801988	0.85[EUR][1000 genomes]
rs1583598	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs170547	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172895	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs179109	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184472	0.89[ASN][1000 genomes]
rs186591	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186592	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186594	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186595	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs190131	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2028155	0.81[ASN][1000 genomes]
rs2118308	0.83[ASN][1000 genomes]
rs227040	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227041	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227053	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227054	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227061	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227062	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227063	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227064	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227066	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227067	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227068	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227069	0.82[ASN][1000 genomes]
rs227070	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227072	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227073	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227074	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227075	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227076	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227077	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227085	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227086	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227087	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227088	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227091	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227092	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227093	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227094	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228588	0.81[EUR][1000 genomes]
rs35352778	0.80[ASN][1000 genomes]
rs365288	0.83[ASN][1000 genomes]
rs374443	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765632	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3901851	0.88[EUR][1000 genomes]
rs396552	0.80[ASN][1000 genomes]
rs419716	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425061	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs425538	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4585	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4754318	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754322	0.83[ASN][1000 genomes]
rs4754324	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4987982	0.83[EUR][1000 genomes]
rs5023001	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs573890	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs582157	0.80[EUR][1000 genomes]
rs583725	0.83[EUR][1000 genomes]
rs592955	0.81[EUR][1000 genomes]
rs595747	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs599164	0.81[EUR][1000 genomes]
rs599558	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600329	0.83[EUR][1000 genomes]
rs601111	0.83[EUR][1000 genomes]
rs606275	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60639858	0.83[ASN][1000 genomes]
rs60683001	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs608086	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs609261	0.83[EUR][1000 genomes]
rs609429	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609655	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs618499	0.82[EUR][1000 genomes]
rs61913892	0.87[EUR][1000 genomes]
rs61915104	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs619972	0.83[EUR][1000 genomes]
rs620613	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs621947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs623860	0.80[AMR][1000 genomes]
rs624366	0.83[EUR][1000 genomes]
rs627418	0.82[EUR][1000 genomes]
rs634268	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs641312	0.81[EUR][1000 genomes]
rs642496	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs645485	0.83[EUR][1000 genomes]
rs647681	0.86[EUR][1000 genomes]
rs650128	0.84[EUR][1000 genomes]
rs650173	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs652311	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs652541	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs654005	0.83[EUR][1000 genomes]
rs6589018	0.83[ASN][1000 genomes]
rs660429	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662218	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662578	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664143	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664677	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs664982	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs673281	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676729	0.84[EUR][1000 genomes]
rs679782	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs694376	0.81[EUR][1000 genomes]
rs7112136	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7120845	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931930	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942014	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943607	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9667658	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
rs605394	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108226400-108244200	Weak transcription	Psoas Muscle	Psoas
3	chr11:108226400-108244600	Weak transcription	Gastric	stomach
4	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
5	chr11:108227600-108245600	Weak transcription	Fetal Brain Female	brain
6	chr11:108227800-108243800	Weak transcription	Fetal Kidney	kidney
7	chr11:108227800-108244200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:108227800-108245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:108235200-108244000	Weak transcription	Osteobl	bone
10	chr11:108236200-108245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:108236400-108244000	Weak transcription	HSMM	muscle
12	chr11:108236400-108244200	Weak transcription	Adipose Nuclei	Adipose
13	chr11:108236800-108245600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:108237600-108244000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:108237600-108244000	Weak transcription	Dnd41	blood
16	chr11:108237600-108244400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:108237800-108245200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:108237800-108245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:108238200-108244000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:108238400-108244000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:108238400-108244600	Weak transcription	Fetal Thymus	thymus
22	chr11:108238600-108244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:108239600-108245800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:108239600-108260800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:108240200-108243800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:108240200-108244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:108240200-108245400	Weak transcription	Primary T cells from cord blood	blood
28	chr11:108240400-108244600	Weak transcription	Liver	Liver
29	chr11:108241600-108244600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:108242000-108244000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:108242400-108243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:108242400-108244000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:108242800-108244400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:108243400-108244000	ZNF genes & repeats	Fetal Brain Male	brain
35	chr11:108243600-108244200	Weak transcription	Primary B cells from cord blood	blood

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