Variant report

Variant	rs228588
Chromosome Location	chr11:108113331-108113332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108091968..108094348-chr11:108112632..108114621,2	K562	blood:

Variant related genes	Relation type
ENSG00000149308	Chromatin interaction
ENSG00000149311	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1003623	0.91[EUR][1000 genomes]
rs1003624	0.91[EUR][1000 genomes]
rs10789659	0.83[AMR][1000 genomes]
rs11212538	0.87[EUR][1000 genomes]
rs11212542	0.83[EUR][1000 genomes]
rs11212543	0.87[EUR][1000 genomes]
rs11212546	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11212551	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212579	0.95[EUR][1000 genomes]
rs1150203	0.91[EUR][1000 genomes]
rs11605442	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12272183	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12787445	0.84[EUR][1000 genomes]
rs1607476	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs172927	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs183459	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs183460	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1850730	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs189037	0.90[EUR][1000 genomes]
rs1893812	0.85[EUR][1000 genomes]
rs1893813	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2056267	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2070661	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2083707	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227040	0.82[EUR][1000 genomes]
rs227041	0.82[EUR][1000 genomes]
rs227053	0.82[EUR][1000 genomes]
rs227054	0.86[AMR][1000 genomes]
rs227061	0.82[EUR][1000 genomes]
rs227062	0.82[EUR][1000 genomes]
rs227063	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227064	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227066	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227067	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227068	0.82[EUR][1000 genomes]
rs227070	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227072	0.82[EUR][1000 genomes]
rs227073	0.82[EUR][1000 genomes]
rs227074	0.82[EUR][1000 genomes]
rs227075	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227076	0.82[EUR][1000 genomes]
rs228589	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228590	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs228591	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228592	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228594	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228596	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228597	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228598	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs228599	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228601	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs228607	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228608	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374443	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3781868	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3781869	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4027718	0.87[EUR][1000 genomes]
rs419716	0.82[EUR][1000 genomes]
rs425061	0.80[EUR][1000 genomes]
rs425538	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4623864	0.87[EUR][1000 genomes]
rs4753833	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4754299	0.84[EUR][1000 genomes]
rs4754301	0.87[EUR][1000 genomes]
rs4754305	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4987982	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs582157	0.88[EUR][1000 genomes]
rs583725	0.91[EUR][1000 genomes]
rs592955	0.89[EUR][1000 genomes]
rs594153	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595747	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs599164	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599406	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs599558	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs600329	0.91[EUR][1000 genomes]
rs600691	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600931	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601111	0.91[EUR][1000 genomes]
rs605394	0.81[EUR][1000 genomes]
rs606275	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs608086	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs609261	0.91[EUR][1000 genomes]
rs609429	0.84[EUR][1000 genomes]
rs609557	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs609655	0.85[EUR][1000 genomes]
rs618499	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs619972	0.91[EUR][1000 genomes]
rs620613	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs621947	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs623860	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs624366	0.91[EUR][1000 genomes]
rs624852	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs624888	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs625120	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627418	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs634268	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs637064	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs641312	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs641605	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642496	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645485	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs647681	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs650128	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs650173	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs652541	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs654005	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6589007	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6589008	0.82[EUR][1000 genomes]
rs660429	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs661467	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662218	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662578	0.84[EUR][1000 genomes]
rs664143	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs664677	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs664982	0.82[EUR][1000 genomes]
rs672655	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs672964	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs673281	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs676729	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs679782	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118967	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7395528	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7932972	0.80[EUR][1000 genomes]
rs7948117	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv556431	chr11:108098142-108115587	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv556432	chr11:108098563-108115539	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs228588	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	chr11:108094600-108121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108094800-108116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
4	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:108095000-108121400	Weak transcription	Colonic Mucosa	Colon
6	chr11:108095400-108119800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:108095800-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:108095800-108122400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
10	chr11:108096400-108156400	Weak transcription	NHLF	lung
11	chr11:108096600-108121400	Weak transcription	Spleen	Spleen
12	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
13	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:108098400-108122400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:108099800-108119600	Weak transcription	NHDF-Ad	bronchial
17	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
18	chr11:108100600-108119200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:108100600-108128200	Weak transcription	K562	blood
20	chr11:108100800-108113400	Weak transcription	Aorta	Aorta
21	chr11:108101200-108128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:108101800-108116200	Weak transcription	Ovary	ovary
24	chr11:108101800-108121400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:108102200-108121400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:108104200-108130000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:108104200-108147400	Weak transcription	Gastric	stomach
28	chr11:108104400-108113600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:108104600-108121400	Weak transcription	Right Ventricle	heart
30	chr11:108104600-108144000	Weak transcription	Lung	lung
31	chr11:108105600-108130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:108107200-108120000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:108107200-108124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:108107600-108119800	Weak transcription	HMEC	breast
35	chr11:108108000-108114000	Weak transcription	Fetal Stomach	stomach
36	chr11:108108000-108120000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:108108200-108114400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:108108200-108115000	Weak transcription	Fetal Brain Female	brain
39	chr11:108108200-108116200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:108108200-108118200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:108108200-108121600	Weak transcription	Brain Germinal Matrix	brain
42	chr11:108108200-108125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:108108400-108184800	Weak transcription	NHEK	skin
45	chr11:108108600-108115000	Weak transcription	HSMM	muscle
46	chr11:108108600-108118000	Weak transcription	NH-A	brain
47	chr11:108108600-108121400	Weak transcription	Fetal Kidney	kidney
48	chr11:108108600-108121600	Weak transcription	HUVEC	blood vessel
49	chr11:108108600-108125400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:108108600-108128000	Weak transcription	Placenta Amnion	Placenta Amnion

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