Variant report

Variant	rs609429
Chromosome Location	chr11:108196509-108196510
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1003623	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1003624	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10431060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431061	0.83[ASN][1000 genomes]
rs10789659	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212538	0.83[AMR][1000 genomes]
rs11212543	0.83[AMR][1000 genomes]
rs11212546	0.85[AMR][1000 genomes]
rs11212551	0.83[AMR][1000 genomes]
rs11212579	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11212610	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11212619	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212635	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs113995	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1150203	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11605442	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12792979	0.83[ASN][1000 genomes]
rs12796446	0.82[ASN][1000 genomes]
rs1583598	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs170547	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs172895	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs172927	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs179109	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs183459	0.84[AMR][1000 genomes]
rs183460	0.90[AMR][1000 genomes]
rs184472	0.89[ASN][1000 genomes]
rs1850730	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs186591	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186592	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs186594	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs186595	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs189037	0.87[AMR][1000 genomes]
rs1893812	0.81[AMR][1000 genomes]
rs190131	0.82[ASN][1000 genomes]
rs2118308	0.82[ASN][1000 genomes]
rs227040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227041	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227050	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs227053	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227061	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227063	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227064	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227066	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227067	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227068	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227069	0.85[ASN][1000 genomes]
rs227070	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227073	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227075	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227076	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227077	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227085	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227086	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227087	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227088	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227091	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227092	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227093	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227094	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228588	0.84[EUR][1000 genomes]
rs228589	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs228590	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs228591	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs228592	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228594	0.81[EUR][1000 genomes]
rs228596	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228597	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228598	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228599	0.81[EUR][1000 genomes]
rs228601	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228607	0.83[AMR][1000 genomes]
rs228608	0.89[AMR][1000 genomes]
rs35352778	0.82[EUR][1000 genomes]
rs365288	0.83[ASN][1000 genomes]
rs374443	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765632	0.80[EUR][1000 genomes]
rs3781868	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3781869	0.85[AMR][1000 genomes]
rs396552	0.81[EUR][1000 genomes]
rs4027718	0.82[AMR][1000 genomes]
rs419716	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs425061	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs425538	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4585	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4623864	0.83[AMR][1000 genomes]
rs4753833	0.85[AMR][1000 genomes]
rs4754301	0.83[AMR][1000 genomes]
rs4754305	0.85[AMR][1000 genomes]
rs4754318	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754322	0.82[ASN][1000 genomes]
rs4754324	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4987982	0.86[EUR][1000 genomes]
rs5023001	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573890	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs582157	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs583725	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs592955	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs594153	0.81[EUR][1000 genomes]
rs595747	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs599164	0.84[EUR][1000 genomes]
rs599406	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs599558	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs600329	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs600691	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs600931	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs601111	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs605394	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs606275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60639858	0.82[ASN][1000 genomes]
rs60683001	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608086	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609261	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs609557	0.92[AMR][1000 genomes]
rs609655	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618499	0.85[EUR][1000 genomes]
rs61915104	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs619972	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs620613	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs621947	0.89[EUR][1000 genomes]
rs623860	0.81[EUR][1000 genomes]
rs624366	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs624888	0.83[AMR][1000 genomes]
rs625120	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs627418	0.85[EUR][1000 genomes]
rs634268	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs637064	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs641312	0.85[EUR][1000 genomes]
rs641605	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs642496	0.85[EUR][1000 genomes]
rs645485	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs647681	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs650128	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs650173	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652311	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652541	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs654005	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6589007	0.83[AMR][1000 genomes]
rs6589018	0.82[ASN][1000 genomes]
rs660429	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661467	0.80[EUR][1000 genomes]
rs662218	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664143	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664677	0.85[EUR][1000 genomes]
rs664982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672655	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs672964	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs673281	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676729	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs679782	0.84[EUR][1000 genomes]
rs682131	0.86[ASN][1000 genomes]
rs694376	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs694799	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7112136	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7120845	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7395528	0.83[AMR][1000 genomes]
rs7931930	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7942014	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7943607	0.82[ASN][1000 genomes]
rs9667658	0.87[EUR][1000 genomes];0.84[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
rs609429	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
10	chr11:108148600-108202600	Weak transcription	Psoas Muscle	Psoas
11	chr11:108148600-108208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:108148600-108225600	Weak transcription	Gastric	stomach
13	chr11:108149200-108208600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:108149600-108209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:108149600-108209600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:108150200-108208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:108151400-108210000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:108158200-108209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:108160200-108212600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:108160400-108211000	Strong transcription	Primary B cells from cord blood	blood
22	chr11:108161000-108209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:108161200-108210400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:108162000-108208800	Strong transcription	Dnd41	blood
25	chr11:108162800-108205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108162800-108209400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:108163600-108200200	Weak transcription	Spleen	Spleen
28	chr11:108165400-108209000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:108171200-108199400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:108175400-108199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
32	chr11:108177200-108208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:108179000-108198600	Weak transcription	HSMMtube	muscle
34	chr11:108179600-108197000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:108179800-108196800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:108180400-108207800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:108182200-108209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
39	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
40	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
41	chr11:108183400-108203800	Strong transcription	Fetal Thymus	thymus
42	chr11:108184200-108208600	Strong transcription	Liver	Liver
43	chr11:108184400-108201000	Weak transcription	HUVEC	blood vessel
44	chr11:108185200-108197400	Weak transcription	Thymus	Thymus
45	chr11:108185400-108196600	Weak transcription	Lung	lung
46	chr11:108187200-108201800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:108187200-108211200	Weak transcription	K562	blood
48	chr11:108187400-108197800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:108187600-108199800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:108187800-108198600	Weak transcription	Ovary	ovary

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