Variant report

Variant	rs3781869
Chromosome Location	chr11:108059000-108059001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108055863..108057677-chr11:108057969..108060716,2	K562	blood:
2	chr11:108058716..108061804-chr11:108062669..108067436,4	K562	blood:
3	chr11:108030141..108031752-chr11:108057656..108060603,2	K562	blood:
4	chr11:108044148..108046642-chr11:108057882..108060353,3	K562	blood:
5	chr11:108058768..108062764-chr11:108063475..108066750,3	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1003623	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1003624	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10789656	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890821	0.87[EUR][1000 genomes]
rs10890822	0.82[AMR][1000 genomes]
rs11212527	0.81[EUR][1000 genomes]
rs11212538	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212542	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212543	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212546	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212551	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212579	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11212610	0.81[AMR][1000 genomes]
rs1150203	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11605442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272183	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12575358	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12787445	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607476	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs172895	0.81[AMR][1000 genomes]
rs172927	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs183459	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs183460	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1850730	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs186591	0.86[AMR][1000 genomes]
rs186595	0.83[AMR][1000 genomes]
rs189037	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893812	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893813	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1973723	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2056267	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2070661	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2083707	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227040	0.85[AMR][1000 genomes]
rs227041	0.87[AMR][1000 genomes]
rs227053	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs227061	0.87[AMR][1000 genomes]
rs227062	0.85[AMR][1000 genomes]
rs227063	0.83[AMR][1000 genomes]
rs227068	0.85[AMR][1000 genomes]
rs227072	0.85[AMR][1000 genomes]
rs227073	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs227074	0.85[AMR][1000 genomes]
rs227076	0.87[AMR][1000 genomes]
rs227077	0.83[AMR][1000 genomes]
rs227086	0.84[AMR][1000 genomes]
rs227087	0.82[AMR][1000 genomes]
rs227088	0.85[AMR][1000 genomes]
rs227091	0.84[AMR][1000 genomes]
rs227092	0.85[AMR][1000 genomes]
rs227093	0.85[AMR][1000 genomes]
rs227094	0.81[AMR][1000 genomes]
rs228588	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs228589	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228590	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs228591	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs228592	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs228594	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs228596	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228597	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs228598	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs228599	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs228601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs228606	0.81[ASN][1000 genomes]
rs228607	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228608	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781868	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4027718	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs419716	0.87[AMR][1000 genomes]
rs425061	0.87[AMR][1000 genomes]
rs4585	0.82[AMR][1000 genomes]
rs4623864	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4753833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754299	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4754301	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754306	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4987982	0.87[EUR][1000 genomes]
rs573890	0.83[AMR][1000 genomes]
rs582157	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs583725	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs592955	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs594153	0.84[EUR][1000 genomes]
rs599164	0.89[EUR][1000 genomes]
rs599406	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs599558	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs600329	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs600691	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs600931	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs601111	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606275	0.82[EUR][1000 genomes]
rs608086	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs609261	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs609429	0.85[AMR][1000 genomes]
rs609557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs618499	0.88[EUR][1000 genomes]
rs61915104	0.83[AMR][1000 genomes]
rs619972	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs620613	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs621947	0.83[EUR][1000 genomes]
rs623860	0.92[EUR][1000 genomes]
rs624366	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs624888	0.91[AMR][1000 genomes]
rs625120	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs627418	0.88[EUR][1000 genomes]
rs634268	0.82[EUR][1000 genomes]
rs637064	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs641312	0.87[EUR][1000 genomes]
rs641605	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs642496	0.88[EUR][1000 genomes]
rs645485	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs647681	0.83[EUR][1000 genomes]
rs650128	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs650173	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs652311	0.83[AMR][1000 genomes]
rs654005	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6589004	0.81[ASN][1000 genomes]
rs6589007	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6589008	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs660429	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs661467	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs662578	0.85[AMR][1000 genomes]
rs664677	0.88[EUR][1000 genomes]
rs664982	0.85[AMR][1000 genomes]
rs672655	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs672964	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs673281	0.82[EUR][1000 genomes]
rs676729	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs679782	0.89[EUR][1000 genomes]
rs694376	0.89[EUR][1000 genomes]
rs694799	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7118967	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7129527	0.88[ASN][1000 genomes]
rs7395528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931930	0.81[AMR][1000 genomes]
rs7932972	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7948117	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3781869	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
5	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:108017000-108075000	Strong transcription	Dnd41	blood
9	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
11	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
17	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
19	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
20	chr11:108041400-108059000	Weak transcription	NHLF	lung
21	chr11:108041400-108059200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:108041600-108074000	Weak transcription	Small Intestine	intestine
23	chr11:108041800-108068000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:108042400-108068000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:108042400-108068000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:108042400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:108042600-108069000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:108042600-108069200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:108042800-108060400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:108042800-108066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:108042800-108068000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:108043000-108066400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:108043000-108067600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:108043400-108070600	Weak transcription	A549	lung
35	chr11:108043600-108059200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:108043600-108064800	Weak transcription	Fetal Kidney	kidney
37	chr11:108044400-108062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:108044600-108070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:108045200-108059800	Weak transcription	NHEK	skin
40	chr11:108046000-108065400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:108046200-108069600	Weak transcription	Stomach Mucosa	stomach
42	chr11:108046400-108070200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:108046600-108067600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:108048000-108062400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:108048200-108066600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:108048400-108060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:108048600-108063000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:108048600-108068200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:108048800-108068600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:108050000-108060400	Strong transcription	Duodenum Mucosa	Duodenum

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