Variant report

Variant	rs227066
Chromosome Location	chr11:108209199-108209200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108204132..108207758-chr11:108208182..108211909,4	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1003623	0.87[EUR][1000 genomes]
rs1003624	0.87[EUR][1000 genomes]
rs10431060	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10431061	0.82[ASN][1000 genomes]
rs10789659	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212579	0.84[EUR][1000 genomes]
rs11212610	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212619	0.88[EUR][1000 genomes]
rs11212635	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212640	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212659	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11212661	0.81[AMR][1000 genomes]
rs113995	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150203	0.87[EUR][1000 genomes]
rs12272183	0.85[AMR][1000 genomes]
rs12792979	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12796446	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12801988	0.81[EUR][1000 genomes]
rs1583598	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1607476	0.86[AMR][1000 genomes]
rs170547	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs172895	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs172927	0.83[EUR][1000 genomes]
rs179109	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs183459	0.90[AMR][1000 genomes]
rs184472	0.88[ASN][1000 genomes]
rs186591	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186592	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs186594	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186595	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1893813	0.86[AMR][1000 genomes]
rs190131	0.81[ASN][1000 genomes]
rs2056267	0.87[AMR][1000 genomes]
rs2070661	0.83[AMR][1000 genomes]
rs2083707	0.87[AMR][1000 genomes]
rs2118308	0.81[ASN][1000 genomes]
rs227040	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227041	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227053	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227054	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227061	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227062	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227063	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227064	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227067	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227068	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227069	0.84[ASN][1000 genomes]
rs227070	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227072	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227073	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227074	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227075	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227076	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227077	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227085	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227086	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227087	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227088	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227091	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227092	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227093	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227094	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228588	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228592	0.82[EUR][1000 genomes]
rs228594	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228599	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228607	0.91[AMR][1000 genomes]
rs228608	0.83[AMR][1000 genomes]
rs35352778	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs365288	0.82[ASN][1000 genomes]
rs374443	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765632	0.84[EUR][1000 genomes]
rs3901851	0.83[EUR][1000 genomes]
rs396552	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs419716	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425061	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs425538	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754318	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4754322	0.81[ASN][1000 genomes]
rs4754324	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4987982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5023001	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs573890	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs582157	0.84[EUR][1000 genomes]
rs583725	0.87[EUR][1000 genomes]
rs592955	0.85[EUR][1000 genomes]
rs594153	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs595747	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs599164	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs599406	0.82[EUR][1000 genomes]
rs599558	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs600329	0.87[EUR][1000 genomes]
rs600691	0.82[EUR][1000 genomes]
rs600931	0.82[EUR][1000 genomes]
rs601111	0.87[EUR][1000 genomes]
rs605394	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606275	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60639858	0.81[ASN][1000 genomes]
rs60683001	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs608086	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609261	0.87[EUR][1000 genomes]
rs609429	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609557	0.81[AMR][1000 genomes]
rs609655	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618499	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61913892	0.82[EUR][1000 genomes]
rs61915104	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs619972	0.87[EUR][1000 genomes]
rs620613	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621947	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs623860	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs624366	0.87[EUR][1000 genomes]
rs624852	0.86[AMR][1000 genomes]
rs627418	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs634268	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs637064	0.83[EUR][1000 genomes]
rs641312	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs642496	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs645485	0.87[EUR][1000 genomes]
rs647681	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs650128	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs650173	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652311	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs652541	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs654005	0.87[EUR][1000 genomes]
rs6589018	0.81[ASN][1000 genomes]
rs660429	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661467	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs662218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs662578	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664143	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664677	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs664982	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs672655	0.83[EUR][1000 genomes]
rs672964	0.82[EUR][1000 genomes]
rs673281	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs676729	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs679782	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs682131	0.81[ASN][1000 genomes]
rs694376	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs694799	0.82[EUR][1000 genomes]
rs7112136	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118967	0.86[AMR][1000 genomes]
rs7120845	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7931930	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7942014	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943607	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9667658	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
rs227066	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
8	chr11:108148600-108225600	Weak transcription	Gastric	stomach
9	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:108149600-108209600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108151400-108210000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:108158200-108209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:108160200-108212600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:108160400-108211000	Strong transcription	Primary B cells from cord blood	blood
15	chr11:108161000-108209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:108161200-108210400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:108162800-108209400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
19	chr11:108182200-108209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
21	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
22	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
23	chr11:108187200-108211200	Weak transcription	K562	blood
24	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
26	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
27	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
28	chr11:108196000-108210800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:108196600-108209800	Strong transcription	HSMM	muscle
30	chr11:108200400-108215000	Weak transcription	Thymus	Thymus
31	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
33	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:108201400-108219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:108201400-108221200	Weak transcription	Fetal Brain Male	brain
36	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
37	chr11:108202800-108221200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
40	chr11:108205000-108210600	Strong transcription	Fetal Thymus	thymus
41	chr11:108205800-108209200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:108206000-108209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:108206000-108209400	Strong transcription	Left Ventricle	heart
44	chr11:108206400-108211200	Weak transcription	NHEK	skin
45	chr11:108206400-108212000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:108206600-108211200	Weak transcription	HMEC	breast
47	chr11:108206800-108209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:108207000-108211400	Weak transcription	Fetal Intestine Large	intestine
49	chr11:108207000-108220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:108207000-108221800	Weak transcription	Lung	lung

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