Variant report

Variant	rs1344250
Chromosome Location	chr12:117587402-117587403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117587228..117589286-chr12:117592743..117594300,2	K562	blood:
2	chr12:117462662..117464720-chr12:117586991..117588878,2	MCF-7	breast:
3	chr12:117579571..117583522-chr12:117585472..117588878,4	K562	blood:
4	chr12:117586367..117588849-chr12:117595209..117598009,3	MCF-7	breast:
5	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
6	chr12:117586134..117588766-chr12:117599351..117602040,2	MCF-7	breast:
7	chr12:117580874..117582720-chr12:117585893..117588244,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10161089	0.93[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10161283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850775	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850776	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850777	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs10850782	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs10850784	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850785	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850786	0.89[ASN][1000 genomes]
rs10850788	0.91[ASN][1000 genomes]
rs10850789	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850790	0.94[CHB][hapmap];0.88[ASN][1000 genomes]
rs10850791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850792	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850793	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10850794	0.93[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850795	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10850798	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10850799	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs11068360	0.96[ASN][1000 genomes]
rs11068361	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068364	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068369	0.90[ASN][1000 genomes]
rs11068370	0.90[ASN][1000 genomes]
rs11068371	0.90[ASN][1000 genomes]
rs11068372	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068374	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11068377	0.93[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068378	1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs11068382	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068385	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068386	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068389	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068390	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068391	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068397	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068409	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12296271	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12302515	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12304192	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12304378	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12304875	0.90[ASN][1000 genomes]
rs12310778	0.90[ASN][1000 genomes]
rs12310794	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12311466	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322298	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs12322527	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12367404	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12368232	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12370592	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12372085	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12422378	0.90[ASN][1000 genomes]
rs12422760	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12425763	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426884	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1472522	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs2036311	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs2036312	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs2062518	0.89[ASN][1000 genomes]
rs2062530	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs2133678	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2221165	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2270790	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270791	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840100	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs3741470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3741472	0.89[ASN][1000 genomes]
rs3817015	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4238053	0.89[ASN][1000 genomes]
rs4767503	0.89[ASN][1000 genomes]
rs4767504	0.90[ASN][1000 genomes]
rs4767506	0.89[ASN][1000 genomes]
rs4767507	0.90[ASN][1000 genomes]
rs4767511	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs4767518	0.86[ASN][1000 genomes]
rs4992936	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57559958	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58346019	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59583452	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60439829	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61572753	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61626101	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67383912	0.88[ASN][1000 genomes]
rs67983226	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7300763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302633	0.86[ASN][1000 genomes]
rs7306379	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307866	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7315039	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73206024	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73206026	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73206027	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73206028	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73206032	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73206033	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73206063	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73393645	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7489177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868757	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs875036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884282	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs884283	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs904656	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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
rs1344250	FBXO21	cis	Heart Left Ventricle	GTEx
rs1344250	FBXO21	cis	Muscle Skeletal	GTEx

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	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
3	chr12:117573000-117588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
5	chr12:117578600-117591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:117578800-117588400	Strong transcription	Stomach Smooth Muscle	stomach
7	chr12:117578800-117588600	Strong transcription	Fetal Brain Female	brain
8	chr12:117578800-117588600	Weak transcription	Fetal Heart	heart
9	chr12:117579000-117588800	Strong transcription	Brain Germinal Matrix	brain
10	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
11	chr12:117579200-117602600	Weak transcription	Psoas Muscle	Psoas
12	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
13	chr12:117579400-117588600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:117579600-117590800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:117579600-117591800	Weak transcription	NH-A	brain
17	chr12:117580000-117593400	Weak transcription	Small Intestine	intestine
18	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:117580400-117593600	Weak transcription	HSMM	muscle
21	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:117580600-117588800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:117580600-117589600	Strong transcription	Dnd41	blood
24	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:117580800-117588800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:117580800-117589000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:117580800-117590600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:117581000-117588400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117581000-117588400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:117581200-117588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:117581200-117588600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:117581600-117588400	Weak transcription	Stomach Mucosa	stomach
37	chr12:117581600-117593000	Strong transcription	Fetal Intestine Large	intestine
38	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:117581800-117589400	Strong transcription	Fetal Thymus	thymus
40	chr12:117581800-117591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:117582000-117588400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:117582000-117588400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:117582000-117588600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:117582000-117593200	Strong transcription	Fetal Intestine Small	intestine
45	chr12:117582000-117613200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:117582200-117587800	Strong transcription	Aorta	Aorta
47	chr12:117582200-117606200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:117582400-117588400	Strong transcription	Placenta	Placenta

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