Variant report

Variant	rs7933029
Chromosome Location	chr11:75484269-75484270
allele	A/C
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	RELA	chr11:75484020-75485197	GM18951	blood:	n/a	n/a
2	EBF1	chr11:75484044-75485041	GM12878	blood:	n/a	chr11:75484492-75484501 chr11:75484320-75484331
3	MTA3	chr11:75483828-75485240	GM12878	blood:	n/a	n/a
4	RUNX3	chr11:75484088-75485119	GM12878	blood:	n/a	n/a
5	SPI1	chr11:75484018-75485354	GM12878	blood:	n/a	chr11:75484780-75484793 chr11:75484786-75484795 chr11:75484484-75484497 chr11:75484487-75484494
6	RELA	chr11:75484004-75485053	GM18505	blood:	n/a	n/a
7	STAT1	chr11:75484247-75484379	GM12878	blood:	n/a	n/a
8	RELA	chr11:75484049-75485047	GM19099	blood:	n/a	n/a
9	EBF1	chr11:75483978-75484479	GM12878	blood:	n/a	chr11:75484320-75484331
10	RUNX3	chr11:75484162-75485162	GM12878	blood:	n/a	n/a
11	IKZF1	chr11:75483964-75485179	GM12878	blood:	n/a	n/a
12	PAX5	chr11:75483798-75484369	GM12878	blood:	n/a	n/a
13	MAZ	chr11:75484213-75484403	GM12878	blood:	n/a	n/a
14	EBF1	chr11:75484149-75484505	GM12878	blood:	n/a	chr11:75484492-75484501 chr11:75484320-75484331
15	RELA	chr11:75483982-75485097	GM12891	blood:	n/a	n/a
16	WRNIP1	chr11:75483989-75484371	GM12878	blood:	n/a	n/a
17	CHD2	chr11:75484171-75485053	GM12878	blood:	n/a	n/a
18	EP300	chr11:75484064-75485135	GM12878	blood:	n/a	chr11:75484482-75484496
19	PAX5	chr11:75483726-75484325	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75272393..75274848-chr11:75481940..75484521,2	MCF-7	breast:
2	chr11:75481614..75484902-chr11:75487270..75489569,3	K562	blood:
3	chr11:75482948..75485726-chr11:75491815..75493587,2	K562	blood:
4	chr11:75479733..75481586-chr11:75483249..75484931,2	K562	blood:
5	chr11:75479282..75481785-chr11:75482674..75485618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247867	TF binding region
ENSG00000254826	TF binding region
ENSG00000062282	Chromatin interaction
ENSG00000247867	Chromatin interaction
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11825799	0.95[AFR][1000 genomes]
rs61459412	0.89[AFR][1000 genomes]
rs7102789	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs73489931	0.90[AFR][1000 genomes]
rs73489936	0.82[AFR][1000 genomes]
rs73489937	0.82[AFR][1000 genomes]
rs73489941	0.82[AFR][1000 genomes]
rs73489942	0.82[AFR][1000 genomes]
rs73489943	0.82[AFR][1000 genomes]
rs73504563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504572	0.90[AFR][1000 genomes]
rs73504578	0.88[AFR][1000 genomes]
rs73504590	0.89[AFR][1000 genomes]
rs7929403	0.91[LWK][hapmap];0.82[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75480600-75488600	Weak transcription	Gastric	stomach
2	chr11:75480600-75491200	Weak transcription	Pancreas	Pancrea
3	chr11:75480600-75491400	Weak transcription	Right Ventricle	heart
4	chr11:75480600-75496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:75480800-75485800	Weak transcription	Right Atrium	heart
6	chr11:75480800-75486800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:75481000-75491600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:75481400-75493800	Weak transcription	Stomach Mucosa	stomach
10	chr11:75481600-75484800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
12	chr11:75482200-75485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:75482400-75485400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:75482400-75490200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:75482600-75484400	Enhancers	Liver	Liver
16	chr11:75482600-75485400	Enhancers	Spleen	Spleen
17	chr11:75482800-75484600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:75482800-75485600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:75483000-75485200	Enhancers	K562	blood
20	chr11:75483000-75486800	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:75483200-75484400	Enhancers	Primary B cells from cord blood	blood
24	chr11:75483200-75488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:75483200-75488400	Weak transcription	HMEC	breast
26	chr11:75483400-75485600	Weak transcription	Lung	lung
27	chr11:75483400-75485800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:75483600-75484600	Weak transcription	HepG2	liver
29	chr11:75483800-75484400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:75484000-75484600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:75484000-75485400	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:75484200-75484400	Enhancers	Fetal Thymus	thymus
33	chr11:75484200-75485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:75484200-75486000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:75484200-75486000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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