Variant report

Variant	rs594153
Chromosome Location	chr11:108131646-108131647
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1003623	0.88[EUR][1000 genomes]
rs1003624	0.88[EUR][1000 genomes]
rs10789659	0.82[AMR][1000 genomes]
rs11212538	0.82[EUR][1000 genomes]
rs11212543	0.82[EUR][1000 genomes]
rs11212546	0.84[EUR][1000 genomes]
rs11212551	0.81[EUR][1000 genomes]
rs11212579	0.91[EUR][1000 genomes]
rs1150203	0.88[EUR][1000 genomes]
rs11605442	0.84[EUR][1000 genomes]
rs12272183	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1607476	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172927	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs183459	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs183460	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1850730	0.82[EUR][1000 genomes]
rs189037	0.85[EUR][1000 genomes]
rs1893812	0.82[EUR][1000 genomes]
rs1893813	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2056267	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2070661	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2083707	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227054	0.84[AMR][1000 genomes]
rs227064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227066	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227067	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227070	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227075	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228588	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228589	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs228590	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228591	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228592	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228594	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228596	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228597	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs228598	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs228599	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228601	0.92[EUR][1000 genomes]
rs228607	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228608	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs374443	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3781868	0.84[EUR][1000 genomes]
rs3781869	0.84[EUR][1000 genomes]
rs4027718	0.82[EUR][1000 genomes]
rs425538	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4623864	0.82[EUR][1000 genomes]
rs4753833	0.84[EUR][1000 genomes]
rs4754299	0.82[AMR][1000 genomes]
rs4754301	0.82[EUR][1000 genomes]
rs4754305	0.84[EUR][1000 genomes]
rs4987982	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs582157	0.85[EUR][1000 genomes]
rs583725	0.88[EUR][1000 genomes]
rs592955	0.86[EUR][1000 genomes]
rs595747	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs599164	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599406	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs599558	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs600329	0.88[EUR][1000 genomes]
rs600691	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs600931	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601111	0.88[EUR][1000 genomes]
rs606275	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs608086	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs609261	0.88[EUR][1000 genomes]
rs609429	0.81[EUR][1000 genomes]
rs609557	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs609655	0.82[EUR][1000 genomes]
rs618499	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs619972	0.88[EUR][1000 genomes]
rs620613	0.87[EUR][1000 genomes]
rs621947	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs623860	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs624366	0.88[EUR][1000 genomes]
rs624852	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs624888	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs625120	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627418	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634268	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs637064	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641312	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs641605	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs642496	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs645485	0.88[EUR][1000 genomes]
rs647681	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs650128	0.87[EUR][1000 genomes]
rs650173	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs652541	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs654005	0.88[EUR][1000 genomes]
rs6589007	0.82[EUR][1000 genomes]
rs660429	0.87[EUR][1000 genomes]
rs661467	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs662218	0.84[EUR][1000 genomes]
rs662578	0.81[EUR][1000 genomes]
rs664143	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs664677	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs672655	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs672964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs673281	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs676729	0.87[EUR][1000 genomes]
rs679782	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694376	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694799	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118967	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7395528	0.84[EUR][1000 genomes]
rs9667658	0.81[AMR][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	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv898385	chr11:108123189-108165736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs594153	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
2	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
4	chr11:108096400-108156400	Weak transcription	NHLF	lung
5	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
6	chr11:108104200-108147400	Weak transcription	Gastric	stomach
7	chr11:108104600-108144000	Weak transcription	Lung	lung
8	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:108108400-108184800	Weak transcription	NHEK	skin
10	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
11	chr11:108113600-108131800	Strong transcription	Dnd41	blood
12	chr11:108113800-108147200	Weak transcription	Aorta	Aorta
13	chr11:108114800-108131800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:108115000-108132800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:108117400-108132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:108118200-108132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:108118400-108131800	Strong transcription	Fetal Thymus	thymus
18	chr11:108118600-108132200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:108118600-108140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:108118800-108133000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:108119600-108132200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:108121200-108132800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:108122000-108142200	Weak transcription	Right Ventricle	heart
24	chr11:108122000-108147400	Weak transcription	Spleen	Spleen
25	chr11:108124000-108132200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:108124400-108131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:108124600-108131800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:108124600-108132200	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:108124600-108132800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:108125400-108132200	Strong transcription	Fetal Stomach	stomach
31	chr11:108126000-108142000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:108126000-108153600	Weak transcription	HUVEC	blood vessel
33	chr11:108126200-108157600	Weak transcription	HMEC	breast
34	chr11:108126800-108131800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:108126800-108149200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:108128400-108132200	Strong transcription	Fetal Intestine Small	intestine
37	chr11:108128800-108140400	Weak transcription	Small Intestine	intestine
38	chr11:108128800-108142600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:108129000-108143200	Weak transcription	Ovary	ovary
40	chr11:108129000-108145800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:108129000-108148000	Weak transcription	Pancreas	Pancrea
42	chr11:108129000-108155400	Weak transcription	HSMMtube	muscle
43	chr11:108129200-108142000	Weak transcription	Fetal Kidney	kidney
44	chr11:108129400-108133000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:108129400-108142200	Weak transcription	Brain Angular Gyrus	brain
46	chr11:108129600-108137800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:108129600-108142000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:108129600-108142000	Weak transcription	Fetal Brain Male	brain
49	chr11:108129800-108137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:108129800-108139200	Weak transcription	Adipose Nuclei	Adipose

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