Variant report

Variant	rs6451764
Chromosome Location	chr5:44541479-44541480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10061166	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10062760	0.89[EUR][1000 genomes]
rs10941672	0.92[EUR][1000 genomes]
rs10941673	0.94[EUR][1000 genomes]
rs1116180	0.86[EUR][1000 genomes]
rs12186589	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12188017	0.89[EUR][1000 genomes]
rs12188390	0.94[EUR][1000 genomes]
rs13153459	0.88[GIH][hapmap]
rs13154743	0.88[GIH][hapmap]
rs13355269	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13358061	0.92[EUR][1000 genomes]
rs1482695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1531803	0.96[EUR][1000 genomes]
rs1552184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16901868	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17319592	0.88[EUR][1000 genomes]
rs1871950	0.89[EUR][1000 genomes]
rs2128431	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2330570	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28561538	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56313556	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57777873	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58261355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58826391	0.89[EUR][1000 genomes]
rs60912459	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61399521	0.89[EUR][1000 genomes]
rs6869262	0.92[EUR][1000 genomes]
rs6870835	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6884170	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72748041	0.90[EUR][1000 genomes]
rs72748047	0.90[EUR][1000 genomes]
rs72748048	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72748056	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72748063	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72748065	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72748076	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72748082	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72748092	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72750279	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73752037	0.90[EUR][1000 genomes]
rs7733376	0.90[EUR][1000 genomes]
rs922853	0.90[EUR][1000 genomes]
rs922854	0.90[EUR][1000 genomes]
rs922855	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs957739	0.83[AMR][1000 genomes];0.91[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	nsv830278	chr5:44540863-44713312	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6451764	MRPS30	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44528200-44544800	Weak transcription	Fetal Lung	lung
2	chr5:44540000-44542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:44540000-44548800	Enhancers	Hela-S3	cervix
4	chr5:44540000-44549400	Weak transcription	Psoas Muscle	Psoas

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