Variant report

Variant	rs11212543
Chromosome Location	chr11:108054922-108054923
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1003623	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1003624	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10789656	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890821	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10890822	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11212527	0.82[EUR][1000 genomes]
rs11212538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212542	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212546	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212551	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11212579	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1150203	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11605442	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12272183	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12575358	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12787445	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1607476	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs172927	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs183459	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs183460	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1850730	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186591	0.84[AMR][1000 genomes]
rs186595	0.81[AMR][1000 genomes]
rs189037	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1893812	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893813	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973723	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2056267	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070661	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083707	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227040	0.83[AMR][1000 genomes]
rs227041	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs227053	0.85[AMR][1000 genomes]
rs227061	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs227062	0.83[AMR][1000 genomes]
rs227063	0.81[AMR][1000 genomes]
rs227068	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs227072	0.83[AMR][1000 genomes]
rs227073	0.85[AMR][1000 genomes]
rs227074	0.83[AMR][1000 genomes]
rs227076	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs227077	0.81[AMR][1000 genomes]
rs227086	0.82[AMR][1000 genomes]
rs227088	0.83[AMR][1000 genomes]
rs227091	0.82[AMR][1000 genomes]
rs227092	0.83[AMR][1000 genomes]
rs227093	0.83[AMR][1000 genomes]
rs228588	0.87[EUR][1000 genomes]
rs228589	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228590	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228591	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228592	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228594	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228596	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs228597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228598	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228599	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228601	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228607	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228608	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781868	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781869	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4027718	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs419716	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs425061	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4623864	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753833	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4754299	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4754306	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4987982	0.85[EUR][1000 genomes]
rs573890	0.81[AMR][1000 genomes]
rs582157	0.81[EUR][1000 genomes]
rs583725	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs592955	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs594153	0.82[EUR][1000 genomes]
rs599164	0.87[EUR][1000 genomes]
rs599406	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs599558	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs600329	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs600691	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs600931	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs601111	0.84[EUR][1000 genomes]
rs606275	0.81[EUR][1000 genomes]
rs608086	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs609261	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs609429	0.83[AMR][1000 genomes]
rs609557	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs618499	0.86[EUR][1000 genomes]
rs61915104	0.81[AMR][1000 genomes]
rs619972	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs620613	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs621947	0.82[EUR][1000 genomes]
rs623860	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs624366	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs624888	0.89[AMR][1000 genomes]
rs625120	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627418	0.86[EUR][1000 genomes]
rs634268	0.81[EUR][1000 genomes]
rs637064	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs641312	0.86[EUR][1000 genomes]
rs641605	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642496	0.86[EUR][1000 genomes]
rs645485	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs647681	0.82[EUR][1000 genomes]
rs650128	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs650173	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs652311	0.81[AMR][1000 genomes]
rs654005	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589004	0.88[ASN][1000 genomes]
rs6589007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6589008	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs660429	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs661467	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662578	0.83[AMR][1000 genomes]
rs664677	0.86[EUR][1000 genomes]
rs664982	0.83[AMR][1000 genomes]
rs672655	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs672964	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs673281	0.81[EUR][1000 genomes]
rs676729	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs679782	0.87[EUR][1000 genomes]
rs694376	0.87[EUR][1000 genomes]
rs694799	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7118967	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129527	0.81[ASN][1000 genomes]
rs7395528	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932972	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7948117	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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
rs11212543	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
10	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
12	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
18	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:108040200-108057400	Weak transcription	Hela-S3	cervix
20	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
21	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
22	chr11:108041400-108059000	Weak transcription	NHLF	lung
23	chr11:108041400-108059200	Weak transcription	Brain Angular Gyrus	brain
24	chr11:108041600-108074000	Weak transcription	Small Intestine	intestine
25	chr11:108041800-108068000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:108042400-108068000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:108042400-108068000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:108042400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:108042600-108069000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:108042600-108069200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:108042800-108060400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:108042800-108066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:108042800-108068000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:108043000-108058200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:108043000-108066400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:108043000-108067600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:108043400-108070600	Weak transcription	A549	lung
38	chr11:108043600-108059200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:108043600-108064800	Weak transcription	Fetal Kidney	kidney
40	chr11:108044000-108056800	Weak transcription	Colonic Mucosa	Colon
41	chr11:108044400-108062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:108044600-108070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:108045000-108057200	Weak transcription	NH-A	brain
44	chr11:108045200-108059800	Weak transcription	NHEK	skin
45	chr11:108046000-108065400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:108046200-108069600	Weak transcription	Stomach Mucosa	stomach
47	chr11:108046400-108056400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:108046400-108070200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:108046600-108067600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:108046800-108055600	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links