Variant report

Variant	rs227093
Chromosome Location	chr11:108233939-108233940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1003623	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1003624	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10431060	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431061	0.82[ASN][1000 genomes]
rs10749917	0.82[AFR][1000 genomes]
rs10789659	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890849	0.81[EUR][1000 genomes]
rs11212538	0.83[AMR][1000 genomes]
rs11212543	0.83[AMR][1000 genomes]
rs11212546	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11212579	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11212610	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212619	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212635	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11212636	0.88[ASN][1000 genomes]
rs11212637	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11212638	0.88[ASN][1000 genomes]
rs11212640	0.83[EUR][1000 genomes]
rs11212659	0.85[EUR][1000 genomes]
rs113995	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150203	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11605442	0.82[AMR][1000 genomes]
rs12792979	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12796446	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12801988	0.82[EUR][1000 genomes]
rs1583598	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs170547	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs172895	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs172927	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs179109	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs183460	0.90[AMR][1000 genomes]
rs184472	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1850730	0.81[AMR][1000 genomes]
rs186591	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs186592	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186594	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs186595	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs189037	0.87[AMR][1000 genomes]
rs190131	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2118308	0.80[ASN][1000 genomes]
rs227040	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227041	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227050	0.81[AMR][1000 genomes]
rs227053	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227054	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227061	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227062	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227063	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227064	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227066	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227067	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227068	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227069	0.92[ASN][1000 genomes]
rs227070	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227072	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227073	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227074	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227075	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227076	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227077	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227085	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227086	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227087	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227091	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs227092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227094	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228589	0.85[AMR][1000 genomes]
rs228590	0.88[AMR][1000 genomes]
rs228591	0.86[AMR][1000 genomes]
rs228592	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs228596	0.84[AMR][1000 genomes]
rs228597	0.82[AMR][1000 genomes]
rs228598	0.84[AMR][1000 genomes]
rs228601	0.81[AMR][1000 genomes]
rs228608	0.85[AMR][1000 genomes]
rs374443	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3765632	0.86[EUR][1000 genomes]
rs3781868	0.83[AMR][1000 genomes]
rs3781869	0.85[AMR][1000 genomes]
rs3901851	0.85[EUR][1000 genomes]
rs4027718	0.82[AMR][1000 genomes]
rs419716	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs425061	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs425538	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4585	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4623864	0.83[AMR][1000 genomes]
rs4753833	0.85[AMR][1000 genomes]
rs4753842	0.88[ASN][1000 genomes]
rs4754301	0.83[AMR][1000 genomes]
rs4754305	0.85[AMR][1000 genomes]
rs4754318	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754322	0.80[ASN][1000 genomes]
rs4754324	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4987982	0.80[EUR][1000 genomes]
rs5023001	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs573890	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs582157	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs583725	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs592955	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs595747	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs599406	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs599558	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600329	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs600691	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs600931	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs601111	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs605394	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs606275	0.84[EUR][1000 genomes]
rs60639858	0.80[ASN][1000 genomes]
rs60683001	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs608086	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs609261	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs609429	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs609557	0.87[AMR][1000 genomes]
rs609655	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61913892	0.84[EUR][1000 genomes]
rs61915104	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs619972	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs620613	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs621947	0.83[EUR][1000 genomes]
rs624366	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs624888	0.83[AMR][1000 genomes]
rs625120	0.88[AMR][1000 genomes]
rs634268	0.84[EUR][1000 genomes]
rs637064	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs641605	0.84[AMR][1000 genomes]
rs645485	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs647681	0.83[EUR][1000 genomes]
rs650128	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs650173	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs652311	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652541	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs654005	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6589018	0.80[ASN][1000 genomes]
rs660429	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs662218	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs662578	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs664143	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs664982	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs672655	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs672964	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs673281	0.84[EUR][1000 genomes]
rs676729	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs694799	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7112136	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7120845	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7395528	0.83[AMR][1000 genomes]
rs7931930	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7942014	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7943063	0.88[ASN][1000 genomes]
rs7943607	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9667658	0.93[EUR][1000 genomes];0.83[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
rs227093	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108207400-108234000	Weak transcription	NHLF	lung
4	chr11:108212000-108236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:108212000-108236600	Weak transcription	Stomach Mucosa	stomach
6	chr11:108212200-108241400	Weak transcription	Hela-S3	cervix
7	chr11:108212800-108238000	Weak transcription	HMEC	breast
8	chr11:108220200-108237000	Weak transcription	A549	lung
9	chr11:108222800-108235600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:108222800-108242200	Weak transcription	Fetal Intestine Small	intestine
11	chr11:108224200-108239200	Weak transcription	Small Intestine	intestine
12	chr11:108225400-108243200	Weak transcription	Fetal Heart	heart
13	chr11:108226000-108240200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:108226400-108234000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:108226400-108235400	Weak transcription	HepG2	liver
16	chr11:108226400-108235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:108226400-108235600	Weak transcription	Spleen	Spleen
18	chr11:108226400-108235800	Weak transcription	HSMM	muscle
19	chr11:108226400-108236200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:108226400-108241400	Weak transcription	Thymus	Thymus
21	chr11:108226400-108244200	Weak transcription	Psoas Muscle	Psoas
22	chr11:108226400-108244600	Weak transcription	Gastric	stomach
23	chr11:108226600-108235400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:108226600-108235600	Weak transcription	HSMMtube	muscle
25	chr11:108226600-108242000	Weak transcription	Lung	lung
26	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
27	chr11:108226800-108234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:108226800-108235400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:108226800-108235600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:108226800-108235600	Weak transcription	Fetal Lung	lung
31	chr11:108226800-108236800	Weak transcription	Colonic Mucosa	Colon
32	chr11:108226800-108237200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:108226800-108239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:108226800-108239000	Weak transcription	Esophagus	oesophagus
35	chr11:108226800-108241400	Weak transcription	Aorta	Aorta
36	chr11:108226800-108241400	Weak transcription	NHEK	skin
37	chr11:108226800-108242800	Weak transcription	Placenta	Placenta
38	chr11:108226800-108243400	Weak transcription	Fetal Brain Male	brain
39	chr11:108227000-108234000	Weak transcription	Osteobl	bone
40	chr11:108227000-108235400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:108227000-108235600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:108227000-108235800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:108227000-108238600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:108227000-108239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:108227000-108239400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:108227200-108240800	Weak transcription	Pancreas	Pancrea
47	chr11:108227200-108241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:108227600-108234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:108227600-108235400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:108227600-108235400	Weak transcription	Primary hematopoietic stem cells	blood

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