Variant report

Variant	rs753219
Chromosome Location	chr5:57966515-57966516
allele	A/G
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:43)

rs_ID	r²[population]
rs10044981	0.87[AFR][1000 genomes]
rs10053212	0.84[AFR][1000 genomes]
rs10055378	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055649	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10058168	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10060872	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061405	0.91[AFR][1000 genomes]
rs10071864	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10078211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079823	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10471459	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10472068	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10472069	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10472070	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10514876	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10514877	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12152774	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153291	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354829	0.82[EUR][1000 genomes]
rs13356606	0.87[AFR][1000 genomes]
rs13358097	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13436622	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17280636	0.84[EUR][1000 genomes]
rs17282012	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17348080	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876690	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2194037	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279981	0.89[ASN][1000 genomes]
rs28588077	0.91[AFR][1000 genomes]
rs35694320	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5011219	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59567790	0.87[AFR][1000 genomes]
rs6877247	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760270	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72760285	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760294	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72760302	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs753220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283719	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292172	0.91[AFR][1000 genomes]
rs9292173	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv4845	chr5:57949493-57994156	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57961800-57967400	Enhancers	HUVEC	blood vessel
2	chr5:57966200-57967200	Enhancers	Fetal Lung	lung
3	chr5:57966400-57967400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:57966400-57967400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:57966400-57967600	Enhancers	Fetal Heart	heart

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