Variant report

Variant	rs62372574
Chromosome Location	chr5:114737587-114737588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12523614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12652178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12652193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12654224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12658313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2124395	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2166338	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2260996	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2260998	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2416408	0.95[AFR][1000 genomes]
rs2416410	0.95[AFR][1000 genomes]
rs2591250	0.95[AFR][1000 genomes]
rs2591251	0.82[AFR][1000 genomes]
rs2591252	0.95[AFR][1000 genomes]
rs2591253	0.82[AFR][1000 genomes]
rs2591254	0.95[AFR][1000 genomes]
rs2591255	0.95[AFR][1000 genomes]
rs2591262	0.83[AMR][1000 genomes]
rs2591263	0.83[AMR][1000 genomes]
rs2605185	0.83[AFR][1000 genomes]
rs2605186	0.95[AFR][1000 genomes]
rs2605188	0.95[AFR][1000 genomes]
rs2605189	0.95[AFR][1000 genomes]
rs2605191	0.95[AFR][1000 genomes]
rs2925188	0.95[AFR][1000 genomes]
rs2925189	0.95[AFR][1000 genomes]
rs2964548	0.95[AFR][1000 genomes]
rs35561259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57327202	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58024996	0.81[AFR][1000 genomes]
rs58409112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59536476	0.84[AFR][1000 genomes]
rs60523123	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61552449	0.90[AFR][1000 genomes]
rs62372573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71588762	0.82[AFR][1000 genomes]
rs959872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3471333	chr5:114731598-114739727	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3520590	chr5:114731610-114739722	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3471334	chr5:114731612-114739723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3520591	chr5:114731612-114739723	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114731200-114738000	Weak transcription	Lung	lung
3	chr5:114732800-114738000	Weak transcription	HSMM	muscle
4	chr5:114733000-114738000	Weak transcription	NH-A	brain
5	chr5:114733000-114738000	Weak transcription	Osteobl	bone
6	chr5:114735000-114737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:114735000-114738000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:114735000-114738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114735200-114737800	Weak transcription	NHDF-Ad	bronchial
10	chr5:114737200-114737600	Weak transcription	NHLF	lung
11	chr5:114737400-114738200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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