Variant report

Variant	rs72757446
Chromosome Location	chr5:54088720-54088721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13436904	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13436919	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17346285	0.88[EUR][1000 genomes]
rs2121130	0.82[EUR][1000 genomes]
rs2166355	0.83[EUR][1000 genomes]
rs35463987	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35985754	0.82[AMR][1000 genomes]
rs4274943	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4355479	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4380600	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4425466	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4472223	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4526067	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4572962	0.89[EUR][1000 genomes]
rs55728436	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55944106	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56145198	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56202300	0.89[EUR][1000 genomes]
rs56207018	0.88[EUR][1000 genomes]
rs56298453	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56386053	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57059470	0.96[EUR][1000 genomes]
rs57348772	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60775366	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6450249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66533726	0.83[EUR][1000 genomes]
rs66599423	0.84[EUR][1000 genomes]
rs66812968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66955270	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67510332	0.83[EUR][1000 genomes]
rs6867643	0.88[EUR][1000 genomes]
rs6876730	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6897534	0.82[EUR][1000 genomes]
rs72757444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72760107	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7710436	0.88[EUR][1000 genomes]
rs7733091	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7734384	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2754136	chr5:54083387-54107727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54073000-54097600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54083200-54088800	Weak transcription	Aorta	Aorta
3	chr5:54087400-54090400	Enhancers	Fetal Muscle Leg	muscle
4	chr5:54087600-54103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:54087800-54088800	Weak transcription	Left Ventricle	heart
6	chr5:54087800-54092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:54088000-54089600	Enhancers	Fetal Heart	heart
8	chr5:54088200-54089600	Enhancers	HSMMtube	muscle
9	chr5:54088400-54089400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:54088400-54091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:54088400-54091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:54088600-54090200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:54088600-54090600	Enhancers	Fetal Stomach	stomach
14	chr5:54088600-54091800	Enhancers	Stomach Mucosa	stomach

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