Variant report

Variant	rs57550540
Chromosome Location	chr11:8078672-8078673
allele	G/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	CEBPB	chr11:8078444-8078955	IMR90	lung:	n/a	chr11:8078740-8078751
2	CEBPB	chr11:8078484-8078961	ECC-1	luminal epithelium:	n/a	chr11:8078740-8078751
3	CEBPB	chr11:8078514-8078939	MCF-7	breast:	n/a	chr11:8078740-8078751
4	TCF12	chr11:8078550-8079024	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr11:8078336-8079119	A549	lung:	n/a	chr11:8078740-8078751
6	CEBPB	chr11:8078527-8078954	A549	lung:	n/a	chr11:8078740-8078751
7	EP300	chr11:8078648-8078998	SK-N-SH_RA	brain:	n/a	n/a
8	CEBPB	chr11:8078557-8078939	H1-hESC	embryonic stem cell:	n/a	chr11:8078740-8078751
9	FOS	chr11:8078627-8078827	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:8078665-8078846	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPD	chr11:8078518-8078915	K562	blood:	n/a	chr11:8078739-8078750
12	CEBPD	chr11:8078645-8078785	HepG2	liver:	n/a	chr11:8078739-8078750
13	CEBPD	chr11:8078596-8078891	K562	blood:	n/a	chr11:8078739-8078750
14	EP300	chr11:8078634-8078940	SK-N-SH_RA	brain:	n/a	n/a
15	CEBPB	chr11:8078632-8078863	HepG2	liver:	n/a	chr11:8078740-8078751
16	CEBPB	chr11:8078547-8078945	A549	lung:	n/a	chr11:8078740-8078751
17	CEBPB	chr11:8078386-8078929	HCT-116	colon:	n/a	chr11:8078740-8078751
18	CEBPD	chr11:8078587-8078853	HepG2	liver:	n/a	chr11:8078739-8078750
19	CEBPB	chr11:8078549-8078949	HepG2	liver:	n/a	chr11:8078740-8078751
20	CEBPB	chr11:8078543-8078860	HepG2	liver:	n/a	chr11:8078740-8078751
21	CEBPB	chr11:8078463-8078962	HCT-116	colon:	n/a	chr11:8078740-8078751
22	CEBPB	chr11:8078463-8078948	ECC-1	luminal epithelium:	n/a	chr11:8078740-8078751
23	CEBPB	chr11:8078484-8078918	K562	blood:	n/a	chr11:8078740-8078751
24	EP300	chr11:8078362-8079275	SK-N-SH	brain:	n/a	n/a
25	CEBPB	chr11:8078451-8078950	Hela-S3	cervix:	n/a	chr11:8078740-8078751
26	CEBPB	chr11:8078381-8078929	MCF-7	breast:	n/a	chr11:8078740-8078751
27	FOS	chr11:8078671-8078893	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:8078633-8078870	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr11:8078563-8078857	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr11:8078603-8078812	K562	blood:	n/a	chr11:8078740-8078751
31	CEBPB	chr11:8078429-8078954	K562	blood:	n/a	chr11:8078740-8078751

Variant related genes	Relation type
ENSG00000248332	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58474311	0.84[AFR][1000 genomes]
rs60339726	0.84[AFR][1000 genomes]
rs61449161	0.85[AFR][1000 genomes]
rs73396716	0.85[AFR][1000 genomes]
rs73396730	0.84[AFR][1000 genomes]
rs73396739	0.84[AFR][1000 genomes]
rs73396747	0.89[AFR][1000 genomes]
rs73396753	1.00[AFR][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8076200-8078800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:8076200-8078800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:8076800-8078800	Enhancers	Right Ventricle	heart
5	chr11:8076800-8079400	Enhancers	Fetal Stomach	stomach
6	chr11:8077400-8078800	Enhancers	Brain Angular Gyrus	brain
7	chr11:8077400-8079200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:8078000-8079000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:8078000-8080000	Enhancers	Colon Smooth Muscle	Colon
10	chr11:8078200-8078800	Enhancers	Fetal Kidney	kidney
11	chr11:8078200-8078800	Enhancers	Placenta	Placenta
12	chr11:8078200-8078800	Enhancers	Ovary	ovary
13	chr11:8078200-8079200	Enhancers	Fetal Intestine Large	intestine
14	chr11:8078200-8079200	Enhancers	Fetal Intestine Small	intestine
15	chr11:8078200-8081000	Weak transcription	Brain Anterior Caudate	brain
16	chr11:8078200-8084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
18	chr11:8078400-8078800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:8078400-8078800	Enhancers	NHDF-Ad	bronchial
20	chr11:8078400-8078800	Enhancers	NHLF	lung
21	chr11:8078400-8079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:8078400-8079000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8078400-8079000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:8078400-8079000	Enhancers	Fetal Lung	lung
25	chr11:8078400-8079000	Enhancers	Osteobl	bone
26	chr11:8078400-8079200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:8078400-8079200	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:8078400-8081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:8078400-8081600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
31	chr11:8078600-8078800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:8078600-8078800	Enhancers	Fetal Muscle Leg	muscle
33	chr11:8078600-8079600	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:8078600-8079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:8078600-8079800	Weak transcription	Pancreas	Pancrea
36	chr11:8078600-8080600	Weak transcription	Right Atrium	heart
37	chr11:8078600-8080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:8078600-8080800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:8078600-8080800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:8078600-8081000	Weak transcription	Left Ventricle	heart
41	chr11:8078600-8081600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:8078600-8081800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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