Variant report

Variant	rs4538928
Chromosome Location	chr8:121392039-121392040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088602	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10096885	0.84[AFR][1000 genomes]
rs10101508	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10105605	0.81[AFR][1000 genomes]
rs12335140	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs28569084	0.88[EUR][1000 genomes]
rs4469499	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57952976	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs58477355	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61538039	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61753755	0.92[EUR][1000 genomes]
rs66653049	0.86[AFR][1000 genomes]
rs66711862	0.90[AFR][1000 genomes]
rs72678248	0.92[EUR][1000 genomes]
rs72678254	0.84[EUR][1000 genomes]
rs72678255	0.92[EUR][1000 genomes]
rs72678264	0.92[EUR][1000 genomes]
rs72678268	0.92[EUR][1000 genomes]
rs73315147	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9297618	0.84[AFR][1000 genomes];0.92[EUR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
2	chr8:121382800-121395400	Weak transcription	Aorta	Aorta
3	chr8:121386200-121395800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:121390400-121392600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:121390400-121392600	Enhancers	NHDF-Ad	bronchial
6	chr8:121390400-121394000	Enhancers	Fetal Heart	heart
7	chr8:121390800-121392200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:121391000-121392400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:121391200-121395800	Weak transcription	Fetal Stomach	stomach
10	chr8:121391200-121406600	Weak transcription	NHLF	lung
11	chr8:121391400-121407000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:121391800-121392400	Enhancers	Osteobl	bone
13	chr8:121392000-121392800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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