Variant report

Variant	rs4756002
Chromosome Location	chr11:33797691-33797692
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	BATF	chr11:33797419-33797716	GM12878	blood:	n/a	chr11:33797541-33797552
2	EBF1	chr11:33797183-33797757	GM12878	blood:	n/a	n/a
3	MAZ	chr11:33797359-33797754	GM12878	blood:	n/a	n/a
4	IRF4	chr11:33797261-33797770	GM12878	blood:	n/a	n/a
5	JUND	chr11:33797106-33797847	GM12878	blood:	n/a	n/a
6	EP300	chr11:33797401-33797856	GM12878	blood:	n/a	n/a
7	EP300	chr11:33797309-33797780	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
2	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:

Variant related genes	Relation type
FBXO3	TF binding region
ENSG00000255272	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10742306	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10768028	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10768029	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836111	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11032383	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11032397	0.90[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1112841	0.82[CEU][hapmap];0.81[GIH][hapmap]
rs12223394	0.85[CHB][hapmap]
rs12224154	0.86[CEU][hapmap]
rs12806824	0.86[CEU][hapmap]
rs12807373	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1522084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522085	0.86[CEU][hapmap];0.81[GIH][hapmap]
rs1718067	0.86[CEU][hapmap]
rs2272064	0.86[CEU][hapmap];0.81[GIH][hapmap]
rs2746602	0.86[CEU][hapmap]
rs4348870	0.86[CEU][hapmap]
rs7107237	0.89[ASN][1000 genomes]
rs7115489	0.91[CEU][hapmap]
rs7937643	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831592	0.86[CEU][hapmap];0.81[GIH][hapmap]
rs831595	0.86[CEU][hapmap]
rs884710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs999479	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4756002	CD59	cis	cerebellum	SCAN
rs4756002	CD59	cis	Thyroid	GTEx
rs4756002	CD59	cis	Esophagus Muscularis	GTEx
rs4756002	CD59	cis	Artery Tibial	GTEx
rs4756002	LDLRAD3	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33796400-33798200	Flanking Active TSS	GM12878-XiMat	blood
2	chr11:33796800-33797800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr11:33796800-33799800	Weak transcription	Right Atrium	heart
4	chr11:33796800-33799800	Weak transcription	Right Ventricle	heart
5	chr11:33797000-33797800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:33797000-33797800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:33797000-33797800	Enhancers	A549	lung
8	chr11:33797000-33798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:33797000-33798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:33797000-33798000	Enhancers	NHEK	skin
11	chr11:33797000-33798000	Enhancers	NHLF	lung
12	chr11:33797000-33799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:33797000-33799800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:33797000-33799800	Weak transcription	Fetal Brain Female	brain
15	chr11:33797200-33797800	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:33797200-33798000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr11:33797200-33798000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr11:33797200-33798000	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:33797200-33798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:33797200-33798200	Enhancers	Colon Smooth Muscle	Colon
21	chr11:33797200-33799400	Weak transcription	Brain Germinal Matrix	brain
22	chr11:33797200-33799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:33797200-33799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:33797200-33799800	Weak transcription	Left Ventricle	heart
25	chr11:33797200-33800000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:33797200-33800800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:33797200-33801600	Weak transcription	Aorta	Aorta
28	chr11:33797200-33801600	Weak transcription	Ovary	ovary
29	chr11:33797400-33799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:33797400-33800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:33797600-33799600	Weak transcription	HSMMtube	muscle
32	chr11:33797600-33799600	Weak transcription	NH-A	brain
33	chr11:33797600-33799800	Weak transcription	HSMM	muscle
34	chr11:33797600-33799800	Weak transcription	NHDF-Ad	bronchial
35	chr11:33797600-33801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:33797600-33801400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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