Variant report

Variant	rs72748047
Chromosome Location	chr5:44454833-44454834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10061166	0.88[EUR][1000 genomes]
rs10941672	0.83[EUR][1000 genomes]
rs10941673	0.85[EUR][1000 genomes]
rs1116180	0.95[EUR][1000 genomes]
rs12186589	0.87[EUR][1000 genomes]
rs12188017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12188390	0.85[EUR][1000 genomes]
rs13355269	0.86[EUR][1000 genomes]
rs13358061	0.83[EUR][1000 genomes]
rs1482695	0.91[EUR][1000 genomes]
rs1531803	0.89[EUR][1000 genomes]
rs1552184	0.91[EUR][1000 genomes]
rs16901868	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17319592	0.97[EUR][1000 genomes]
rs1871950	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2128431	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2330570	0.89[EUR][1000 genomes]
rs28561538	0.88[EUR][1000 genomes]
rs56313556	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57777873	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58261355	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58826391	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60912459	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61399521	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6451764	0.90[EUR][1000 genomes]
rs6869262	0.83[EUR][1000 genomes]
rs6870835	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6884170	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72748041	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748048	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748056	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72748063	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72748065	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72748076	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748082	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72748092	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72750279	0.87[EUR][1000 genomes]
rs73752037	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7733376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922853	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922854	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922855	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs957739	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830277	chr5:44383402-44566881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1024923	chr5:44439853-44528314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44454200-44455400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:44454200-44458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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