Variant report

Variant	rs12282096
Chromosome Location	chr11:33799671-33799672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:33799506-33799856	H1-hESC	embryonic stem cell:	n/a	chr11:33799684-33799698 chr11:33799687-33799697 chr11:33799686-33799701 chr11:33799681-33799701 chr11:33799786-33799797 chr11:33799683-33799699
2	MAFK	chr11:33799528-33799821	HepG2	liver:	n/a	chr11:33799684-33799698 chr11:33799687-33799697 chr11:33799686-33799701 chr11:33799681-33799701 chr11:33799786-33799797 chr11:33799683-33799699
3	MAFK	chr11:33799529-33799864	IMR90	lung:	n/a	chr11:33799684-33799698 chr11:33799687-33799697 chr11:33799686-33799701 chr11:33799681-33799701 chr11:33799786-33799797 chr11:33799683-33799699
4	MAFK	chr11:33799537-33799836	HepG2	liver:	n/a	chr11:33799684-33799698 chr11:33799687-33799697 chr11:33799686-33799701 chr11:33799681-33799701 chr11:33799786-33799797 chr11:33799683-33799699
5	MAFF	chr11:33799529-33799730	HepG2	liver:	n/a	chr11:33799685-33799703 chr11:33799684-33799698

No.	Distal block	Cell Line	Cell type
1	chr11:33795039..33797877-chr11:33799009..33801476,4	K562	blood:
2	chr11:33796653..33798601-chr11:33799418..33801172,2	MCF-7	breast:
3	chr11:33795039..33797911-chr11:33799630..33801680,2	K562	blood:
4	chr11:33765991..33768760-chr11:33799223..33801233,2	K562	blood:
5	chr11:33783005..33784901-chr11:33798617..33800423,2	K562	blood:

Variant related genes	Relation type
FBXO3	TF binding region
ENSG00000255272	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000254508	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11032363	0.82[CEU][hapmap]
rs11032380	1.00[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs12361553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420267	0.87[CEU][hapmap]
rs1402953	0.82[CEU][hapmap]
rs1402957	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1464484	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464487	0.85[AMR][1000 genomes]
rs1522087	0.84[AMR][1000 genomes]
rs1533800	1.00[YRI][hapmap]
rs1533801	0.81[ASW][hapmap];0.93[YRI][hapmap]
rs1578986	0.82[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs2056396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2140066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177123	0.94[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs2222397	0.94[CHB][hapmap]
rs2421209	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[ASN][1000 genomes]
rs2901376	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs4755340	0.95[CEU][hapmap]
rs4756025	1.00[CEU][hapmap]
rs4756031	0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs704702	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs704703	0.82[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs7125621	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831594	0.82[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs831596	0.82[MEX][hapmap]
rs939804	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953871	0.87[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12282096	FBXO3	cis	cerebellum	SCAN

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33796800-33799800	Weak transcription	Right Atrium	heart
2	chr11:33796800-33799800	Weak transcription	Right Ventricle	heart
3	chr11:33797000-33799800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:33797000-33799800	Weak transcription	Fetal Brain Female	brain
5	chr11:33797200-33799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:33797200-33799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:33797200-33799800	Weak transcription	Left Ventricle	heart
8	chr11:33797200-33800000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:33797200-33800800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:33797200-33801600	Weak transcription	Aorta	Aorta
11	chr11:33797200-33801600	Weak transcription	Ovary	ovary
12	chr11:33797400-33800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:33797600-33799800	Weak transcription	HSMM	muscle
14	chr11:33797600-33799800	Weak transcription	NHDF-Ad	bronchial
15	chr11:33797600-33801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:33797600-33801400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:33797800-33800000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:33798000-33800600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr11:33798200-33800200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:33798200-33800400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:33798400-33802000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:33798600-33800400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:33799200-33800200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:33799200-33800400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:33799200-33800800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:33799400-33799800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:33799400-33799800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:33799400-33799800	Enhancers	Brain Germinal Matrix	brain
29	chr11:33799400-33800000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:33799400-33800400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr11:33799400-33800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:33799400-33801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:33799400-33802000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:33799600-33799800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:33799600-33799800	Bivalent Enhancer	K562	blood
36	chr11:33799600-33800000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:33799600-33800000	Enhancers	NH-A	brain
38	chr11:33799600-33800400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:33799600-33800400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:33799600-33800600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:33799600-33800600	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr11:33799600-33800800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:33799600-33801400	Enhancers	HSMMtube	muscle
44	chr11:33799600-33801400	Enhancers	Osteobl	bone
45	chr11:33799600-33801800	Enhancers	Fetal Heart	heart
46	chr11:33799600-33802000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:33799600-33802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:33799600-33802200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:33799600-33802200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:33799600-33802400	Enhancers	NHLF	lung

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