Variant report

Variant	rs1472522
Chromosome Location	chr12:117586236-117586237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117579571..117583522-chr12:117585472..117588878,4	K562	blood:
2	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
3	chr12:117586134..117588766-chr12:117599351..117602040,2	MCF-7	breast:
4	chr12:117580874..117582720-chr12:117585893..117588244,3	MCF-7	breast:
5	chr12:117578341..117580665-chr12:117585806..117587323,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10161089	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs10161283	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs10774905	0.85[CEU][hapmap]
rs10850775	0.90[ASN][1000 genomes]
rs10850776	0.90[ASN][1000 genomes]
rs10850777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850782	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850784	0.86[ASN][1000 genomes]
rs10850785	0.96[ASN][1000 genomes]
rs10850786	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850788	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10850789	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10850790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850791	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs10850792	0.95[ASN][1000 genomes]
rs10850793	0.87[ASN][1000 genomes]
rs10850794	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10850795	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10850799	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11068360	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068361	0.98[ASN][1000 genomes]
rs11068363	0.89[ASN][1000 genomes]
rs11068364	0.99[ASN][1000 genomes]
rs11068365	0.90[ASN][1000 genomes]
rs11068366	0.90[ASN][1000 genomes]
rs11068367	0.90[ASN][1000 genomes]
rs11068368	0.90[ASN][1000 genomes]
rs11068369	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068370	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068371	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068372	0.92[ASN][1000 genomes]
rs11068373	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs11068377	1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs11068378	0.98[ASN][1000 genomes]
rs11068382	0.90[ASN][1000 genomes]
rs11068384	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs11068385	0.97[ASN][1000 genomes]
rs11068386	0.96[ASN][1000 genomes]
rs11068387	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs11068389	0.96[ASN][1000 genomes]
rs11068390	0.94[ASN][1000 genomes]
rs11068391	0.95[ASN][1000 genomes]
rs11068392	0.95[ASN][1000 genomes]
rs11068397	0.83[ASN][1000 genomes]
rs11068409	0.85[ASN][1000 genomes]
rs12296271	0.96[ASN][1000 genomes]
rs12302515	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12304192	0.96[ASN][1000 genomes]
rs12304378	0.90[ASN][1000 genomes]
rs12304875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310778	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310794	0.95[ASN][1000 genomes]
rs12311466	0.88[ASN][1000 genomes]
rs12317902	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12322298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322527	0.89[ASN][1000 genomes]
rs12367404	0.97[ASN][1000 genomes]
rs12368232	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs12370592	0.95[ASN][1000 genomes]
rs12372085	0.95[ASN][1000 genomes]
rs12422378	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422760	0.95[ASN][1000 genomes]
rs12425763	0.86[ASN][1000 genomes]
rs12426884	0.88[ASN][1000 genomes]
rs1344250	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs2036311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036312	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062518	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2062530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221165	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2270790	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2270791	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2279765	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs2279766	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2840100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741470	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs3741472	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817015	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs4238053	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4492907	0.89[CEU][hapmap]
rs4766831	0.81[EUR][1000 genomes]
rs4767502	0.85[CEU][hapmap]
rs4767503	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767504	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767505	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs4767506	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767507	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767518	0.94[ASN][1000 genomes]
rs4992936	0.97[ASN][1000 genomes]
rs57559958	0.96[ASN][1000 genomes]
rs58346019	0.92[ASN][1000 genomes]
rs59583452	0.96[ASN][1000 genomes]
rs60439829	0.93[ASN][1000 genomes]
rs61572753	0.96[ASN][1000 genomes]
rs61626101	0.96[ASN][1000 genomes]
rs6490117	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs67383912	0.81[ASN][1000 genomes]
rs67983226	0.95[ASN][1000 genomes]
rs7298778	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7300763	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs7302633	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306379	0.97[ASN][1000 genomes]
rs7313745	0.81[EUR][1000 genomes]
rs7315039	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs73206024	0.85[ASN][1000 genomes]
rs73206026	0.87[ASN][1000 genomes]
rs73206027	0.87[ASN][1000 genomes]
rs73206028	0.87[ASN][1000 genomes]
rs73206032	0.89[ASN][1000 genomes]
rs73206033	0.97[ASN][1000 genomes]
rs73206063	0.83[ASN][1000 genomes]
rs73393645	0.88[ASN][1000 genomes]
rs7489177	0.90[ASN][1000 genomes]
rs7957758	0.81[EUR][1000 genomes]
rs7959489	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7974581	0.90[ASN][1000 genomes]
rs868757	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs875036	0.90[ASN][1000 genomes]
rs884282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884283	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs904656	0.96[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1472522	FBXO21	cis	Heart Left Ventricle	GTEx
rs1472522	FBXO21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117568600-117588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:117572200-117586400	Weak transcription	NHDF-Ad	bronchial
3	chr12:117572200-117586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
5	chr12:117573000-117588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
7	chr12:117578600-117591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:117578800-117588400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:117578800-117588600	Strong transcription	Fetal Brain Female	brain
10	chr12:117578800-117588600	Weak transcription	Fetal Heart	heart
11	chr12:117579000-117588800	Strong transcription	Brain Germinal Matrix	brain
12	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
13	chr12:117579200-117602600	Weak transcription	Psoas Muscle	Psoas
14	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
15	chr12:117579400-117588600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:117579600-117590800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:117579600-117591800	Weak transcription	NH-A	brain
19	chr12:117580000-117593400	Weak transcription	Small Intestine	intestine
20	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117580400-117593600	Weak transcription	HSMM	muscle
23	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:117580600-117588800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:117580600-117589600	Strong transcription	Dnd41	blood
26	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:117580800-117588800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:117580800-117589000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:117580800-117590600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:117581000-117588400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:117581000-117588400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:117581200-117588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:117581200-117588600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:117581600-117588400	Weak transcription	Stomach Mucosa	stomach
39	chr12:117581600-117593000	Strong transcription	Fetal Intestine Large	intestine
40	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:117581800-117589400	Strong transcription	Fetal Thymus	thymus
42	chr12:117581800-117591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:117582000-117588400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:117582000-117588400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:117582000-117588600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:117582000-117593200	Strong transcription	Fetal Intestine Small	intestine
47	chr12:117582000-117613200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:117582200-117586600	Strong transcription	GM12878-XiMat	blood
49	chr12:117582200-117587400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:117582200-117587800	Strong transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links