Variant report

Variant	rs11032380
Chromosome Location	chr11:33800533-33800534
allele	A/T
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	TAF1	chr11:33800345-33800572	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:33800140-33800844	SK-N-SH	brain:	n/a	chr11:33800543-33800554 chr11:33800403-33800416
3	ARID3A	chr11:33800528-33800608	K562	blood:	n/a	n/a
4	PBX3	chr11:33800159-33800787	SK-N-SH	brain:	n/a	chr11:33800281-33800301
5	GATA2	chr11:33800037-33800809	SH-SY5Y	brain:	n/a	chr11:33800543-33800554 chr11:33800403-33800416
6	NFIC	chr11:33800268-33800896	SK-N-SH	brain:	n/a	n/a
7	EP300	chr11:33800289-33800688	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr11:33800460-33800610	AG04449	skin:	n/a	n/a
9	RCOR1	chr11:33800478-33800559	K562	blood:	n/a	n/a
10	YY1	chr11:33800233-33800649	SK-N-SH_RA	brain:	n/a	n/a
11	JUND	chr11:33800517-33800536	K562	blood:	n/a	n/a
12	PBX3	chr11:33800220-33800732	SK-N-SH	brain:	n/a	chr11:33800281-33800301
13	GATA3	chr11:33800120-33800919	SK-N-SH	brain:	n/a	chr11:33800543-33800554 chr11:33800903-33800910 chr11:33800903-33800910 chr11:33800903-33800910 chr11:33800902-33800912 chr11:33800403-33800416
14	EP300	chr11:33800274-33800614	SK-N-SH_RA	brain:	n/a	n/a
15	TCF12	chr11:33800199-33800812	SK-N-SH	brain:	n/a	n/a
16	JUND	chr11:33800319-33800546	H1-hESC	embryonic stem cell:	n/a	chr11:33800428-33800440 chr11:33800467-33800481
17	JUND	chr11:33800214-33800786	SK-N-SH	brain:	n/a	chr11:33800428-33800440 chr11:33800467-33800481
18	POLR2A	chr11:33800261-33800627	SK-N-SH	brain:	n/a	n/a
19	KAP1	chr11:33800040-33800793	HEK293	kidney:	n/a	n/a
20	SP1	chr11:33800228-33800601	H1-hESC	embryonic stem cell:	n/a	chr11:33800317-33800326
21	YY1	chr11:33800325-33800712	SK-N-SH_RA	brain:	n/a	n/a
22	RAD21	chr11:33800240-33800601	SK-N-SH_RA	brain:	n/a	n/a
23	SP1	chr11:33800246-33800618	H1-hESC	embryonic stem cell:	n/a	chr11:33800317-33800326
24	SIN3AK20	chr11:33800259-33800580	SK-N-SH	brain:	n/a	n/a
25	RCOR1	chr11:33800406-33800883	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33795039..33797877-chr11:33799009..33801476,4	K562	blood:
2	chr11:33800180..33801974-chr11:33802206..33805134,2	K562	blood:
3	chr11:33796653..33798601-chr11:33799418..33801172,2	MCF-7	breast:
4	chr11:33795039..33797911-chr11:33799630..33801680,2	K562	blood:
5	chr11:33765991..33768760-chr11:33799223..33801233,2	K562	blood:

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

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11032363	0.82[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs11032374	0.93[AMR][1000 genomes]
rs1112840	0.91[AMR][1000 genomes]
rs12282096	1.00[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs12361553	1.00[CEU][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs12420267	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[YRI][hapmap]
rs1402953	0.82[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs1402957	0.83[EUR][1000 genomes]
rs1464484	0.85[EUR][1000 genomes]
rs1578986	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs17761158	0.93[MKK][hapmap];1.00[YRI][hapmap]
rs2056396	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2140066	0.86[EUR][1000 genomes]
rs2901376	0.86[CEU][hapmap]
rs3181274	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs34944910	0.91[AMR][1000 genomes]
rs35162575	0.89[AMR][1000 genomes]
rs4755340	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4756025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs704702	0.82[CEU][hapmap]
rs704703	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs7125621	1.00[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs7927218	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs831594	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs831611	1.00[YRI][hapmap]
rs831625	1.00[YRI][hapmap]
rs831635	1.00[YRI][hapmap]
rs939804	0.95[CEU][hapmap];0.87[MKK][hapmap]
rs953871	0.87[CEU][hapmap];0.83[TSI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11032380	FBXO3	cis	cerebellum	SCAN
rs11032380	CAPRIN1	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33797200-33800800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:33797200-33801600	Weak transcription	Aorta	Aorta
3	chr11:33797200-33801600	Weak transcription	Ovary	ovary
4	chr11:33797600-33801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:33797600-33801400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:33798000-33800600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:33798400-33802000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:33799200-33800800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:33799400-33800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:33799400-33801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:33799400-33802000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:33799600-33800600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:33799600-33800600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr11:33799600-33800800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:33799600-33801400	Enhancers	HSMMtube	muscle
16	chr11:33799600-33801400	Enhancers	Osteobl	bone
17	chr11:33799600-33801800	Enhancers	Fetal Heart	heart
18	chr11:33799600-33802000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:33799600-33802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:33799600-33802200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:33799600-33802200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:33799600-33802400	Enhancers	NHLF	lung
23	chr11:33799800-33800600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:33799800-33800600	Bivalent Enhancer	Fetal Lung	lung
25	chr11:33799800-33800600	Bivalent Enhancer	Thymus	Thymus
26	chr11:33799800-33800800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:33799800-33801200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:33799800-33801200	Enhancers	Fetal Brain Male	brain
29	chr11:33799800-33801400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:33799800-33801600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:33799800-33801800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:33799800-33802000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:33799800-33802000	Enhancers	NHDF-Ad	bronchial
34	chr11:33799800-33802200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:33799800-33802400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:33799800-33802400	Enhancers	HSMM	muscle
37	chr11:33799800-33802800	Enhancers	Left Ventricle	heart
38	chr11:33800000-33800800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:33800000-33801200	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr11:33800000-33802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:33800000-33802400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:33800200-33800600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:33800400-33800600	Enhancers	Fetal Brain Female	brain
44	chr11:33800400-33801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:33800400-33801200	Enhancers	NH-A	brain
46	chr11:33800400-33801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:33800400-33801400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:33800400-33801400	Weak transcription	Right Atrium	heart
49	chr11:33800400-33801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:33800400-33801600	Enhancers	HUES48 Cell Line	embryonic stem cell

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