Variant report

Variant	rs4754301
Chromosome Location	chr11:108048541-108048542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108046670..108049307-chr11:108065336..108067903,2	K562	blood:
2	chr11:108026155..108028288-chr11:108047248..108050243,2	K562	blood:

Extended variants
information (count: 132 )
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];0.83[ASN][1000 genomes]
rs10890821	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10890822	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11212527	0.82[EUR][1000 genomes]
rs11212538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212542	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212546	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212551	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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];0.94[ASN][1000 genomes]
rs12272183	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12575358	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12787445	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1607476	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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];0.87[ASN][1000 genomes]
rs183460	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850730	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.83[ASN][1000 genomes]
rs1893812	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1893813	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1973723	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2056267	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070661	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2083707	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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];0.91[ASN][1000 genomes]
rs228590	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228591	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228592	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228594	0.90[EUR][1000 genomes]
rs228596	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs228597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228598	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228599	0.90[EUR][1000 genomes]
rs228601	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs228607	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228608	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3781868	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781869	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4027718	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753833	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754299	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754306	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[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];0.80[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];0.80[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];0.90[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]
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];0.85[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];0.85[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	0.87[ASN][1000 genomes]
rs6589007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589008	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs660429	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs661467	0.89[EUR][1000 genomes];0.81[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];0.80[ASN][1000 genomes]
rs7118967	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7129527	0.82[ASN][1000 genomes]
rs7395528	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7932972	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7948117	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4754301	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	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
7	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:108017000-108075000	Strong transcription	Dnd41	blood
11	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
12	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
13	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
14	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
17	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:108030000-108048800	Strong transcription	Fetal Intestine Large	intestine
22	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:108032800-108051800	Weak transcription	Gastric	stomach
24	chr11:108033400-108051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:108033400-108053200	Weak transcription	Aorta	Aorta
26	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
27	chr11:108037200-108052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:108038400-108052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:108039800-108049000	Strong transcription	K562	blood
31	chr11:108040200-108057400	Weak transcription	Hela-S3	cervix
32	chr11:108040400-108053200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
34	chr11:108040600-108048600	Weak transcription	HepG2	liver
35	chr11:108040600-108051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:108040600-108051800	Weak transcription	Right Ventricle	heart
37	chr11:108040600-108053000	Weak transcription	Fetal Heart	heart
38	chr11:108040600-108053400	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:108040800-108053000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
41	chr11:108041200-108054600	Weak transcription	Brain Substantia Nigra	brain
42	chr11:108041400-108050800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:108041400-108053400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:108041400-108059000	Weak transcription	NHLF	lung
45	chr11:108041400-108059200	Weak transcription	Brain Angular Gyrus	brain
46	chr11:108041600-108074000	Weak transcription	Small Intestine	intestine
47	chr11:108041800-108053200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:108041800-108068000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:108042400-108051200	Strong transcription	Primary B cells from cord blood	blood
50	chr11:108042400-108068000	Strong transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links