Variant report

Variant	rs74052199
Chromosome Location	chr11:8079950-8079951
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	USF1	chr11:8079829-8079964	HepG2	liver:	n/a	chr11:8079909-8079920
2	USF1	chr11:8079805-8080011	K562	blood:	n/a	chr11:8079909-8079920
3	USF1	chr11:8079778-8080073	K562	blood:	n/a	chr11:8079909-8079920
4	MAX	chr11:8079804-8080032	K562	blood:	n/a	n/a

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	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822728	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823329	1.00[ASN][1000 genomes]
rs1406096	0.87[ASN][1000 genomes]
rs1528129	0.86[EUR][1000 genomes]
rs1881233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918849	0.81[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	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113068	0.87[ASN][1000 genomes]
rs55642260	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755543	0.87[EUR][1000 genomes]
rs55810550	1.00[ASN][1000 genomes]
rs55953869	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961279	1.00[ASN][1000 genomes]
rs56242213	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657031	1.00[ASN][1000 genomes]
rs58666270	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59118706	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59924750	0.88[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	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052195	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052196	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939493	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941439	0.91[AMR][1000 genomes];0.99[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078000-8080000	Enhancers	Colon Smooth Muscle	Colon
3	chr11:8078200-8081000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:8078200-8084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
6	chr11:8078400-8081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:8078400-8081600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
9	chr11:8078600-8080600	Weak transcription	Right Atrium	heart
10	chr11:8078600-8080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:8078600-8080800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:8078600-8080800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:8078600-8081000	Weak transcription	Left Ventricle	heart
14	chr11:8078600-8081600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:8078600-8081800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:8078800-8080600	Weak transcription	Right Ventricle	heart
17	chr11:8078800-8080800	Weak transcription	Placenta	Placenta
18	chr11:8078800-8081000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:8078800-8081000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:8078800-8081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:8078800-8081200	Weak transcription	Fetal Kidney	kidney
22	chr11:8078800-8081200	Weak transcription	Ovary	ovary
23	chr11:8078800-8081400	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:8078800-8082000	Weak transcription	NHDF-Ad	bronchial
25	chr11:8078800-8082200	Weak transcription	NHLF	lung
26	chr11:8079000-8080000	Weak transcription	Fetal Lung	lung
27	chr11:8079000-8080200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:8079000-8081800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:8079000-8081800	Weak transcription	Osteobl	bone
30	chr11:8079000-8082000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:8079000-8082200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:8079000-8082200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:8079200-8081000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:8079200-8081200	Weak transcription	Fetal Intestine Small	intestine
35	chr11:8079200-8081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:8079200-8082200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:8079400-8080800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:8079400-8080800	Weak transcription	Fetal Stomach	stomach
39	chr11:8079600-8080400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:8079800-8080000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:8079800-8080000	Enhancers	Pancreas	Pancrea

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