Variant report

Variant	rs74052195
Chromosome Location	chr11:8078422-8078423
allele	C/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	chr11:8078336-8079119	A549	lung:	n/a	chr11:8078740-8078751
2	CEBPB	chr11:8078386-8078929	HCT-116	colon:	n/a	chr11:8078740-8078751
3	EP300	chr11:8078362-8079275	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr11:8078381-8078929	MCF-7	breast:	n/a	chr11:8078740-8078751

Variant related genes	Relation type
ENSG00000248332	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11041732	0.87[ASN][1000 genomes]
rs11601971	1.00[ASN][1000 genomes]
rs11821236	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822728	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823329	1.00[ASN][1000 genomes]
rs1406096	0.87[ASN][1000 genomes]
rs1528129	0.87[EUR][1000 genomes]
rs1881233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918849	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141322	1.00[ASN][1000 genomes]
rs35326533	0.87[ASN][1000 genomes]
rs35807385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113068	0.87[ASN][1000 genomes]
rs55642260	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755543	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55810550	1.00[ASN][1000 genomes]
rs55953869	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961279	1.00[ASN][1000 genomes]
rs56242213	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657031	1.00[ASN][1000 genomes]
rs58666270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59118706	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59924750	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112750	0.87[ASN][1000 genomes]
rs7113956	0.87[ASN][1000 genomes]
rs7124782	0.81[ASN][1000 genomes]
rs73396771	0.87[ASN][1000 genomes]
rs73396784	0.87[ASN][1000 genomes]
rs74052193	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052199	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:45 , 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	chr11:8076800-8078600	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:8076800-8078800	Enhancers	Right Ventricle	heart
6	chr11:8076800-8079400	Enhancers	Fetal Stomach	stomach
7	chr11:8077000-8078600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:8077400-8078800	Enhancers	Brain Angular Gyrus	brain
9	chr11:8077400-8079200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:8077600-8078600	Enhancers	Left Ventricle	heart
11	chr11:8077800-8078600	Enhancers	Right Atrium	heart
12	chr11:8077800-8078600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:8078000-8078600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:8078000-8079000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:8078000-8080000	Enhancers	Colon Smooth Muscle	Colon
16	chr11:8078200-8078600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:8078200-8078600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8078200-8078600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:8078200-8078600	Enhancers	Pancreas	Pancrea
20	chr11:8078200-8078800	Enhancers	Fetal Kidney	kidney
21	chr11:8078200-8078800	Enhancers	Placenta	Placenta
22	chr11:8078200-8078800	Enhancers	Ovary	ovary
23	chr11:8078200-8079200	Enhancers	Fetal Intestine Large	intestine
24	chr11:8078200-8079200	Enhancers	Fetal Intestine Small	intestine
25	chr11:8078200-8081000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:8078200-8084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
28	chr11:8078400-8078600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:8078400-8078600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:8078400-8078600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr11:8078400-8078600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr11:8078400-8078600	Enhancers	Hela-S3	cervix
33	chr11:8078400-8078800	Enhancers	Fetal Muscle Trunk	muscle
34	chr11:8078400-8078800	Enhancers	NHDF-Ad	bronchial
35	chr11:8078400-8078800	Enhancers	NHLF	lung
36	chr11:8078400-8079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:8078400-8079000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:8078400-8079000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:8078400-8079000	Enhancers	Fetal Lung	lung
40	chr11:8078400-8079000	Enhancers	Osteobl	bone
41	chr11:8078400-8079200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:8078400-8079200	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:8078400-8081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:8078400-8081600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus

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