Variant report

Variant	rs6594619
Chromosome Location	chr5:111915524-111915525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10052730	0.95[ASN][1000 genomes]
rs10052739	0.95[ASN][1000 genomes]
rs10066425	0.97[ASN][1000 genomes]
rs10067709	0.95[ASN][1000 genomes]
rs11742518	0.95[ASN][1000 genomes]
rs11747396	0.95[ASN][1000 genomes]
rs12110086	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12516949	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12518872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13185746	0.95[ASN][1000 genomes]
rs4073304	0.95[ASN][1000 genomes]
rs4073305	0.95[ASN][1000 genomes]
rs4073306	0.94[ASN][1000 genomes]
rs4246013	0.97[ASN][1000 genomes]
rs4362986	0.97[ASN][1000 genomes]
rs4415120	0.97[ASN][1000 genomes]
rs4469237	0.97[ASN][1000 genomes]
rs4957652	1.00[ASN][1000 genomes]
rs4957653	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4957654	0.95[ASN][1000 genomes]
rs4957655	0.95[ASN][1000 genomes]
rs4957657	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4958063	0.97[ASN][1000 genomes]
rs4958065	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4958067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4958069	0.96[ASN][1000 genomes]
rs62365791	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62365805	0.96[EUR][1000 genomes]
rs62365806	0.90[EUR][1000 genomes]
rs6421845	0.92[ASN][1000 genomes]
rs6594625	0.95[ASN][1000 genomes]
rs6594627	0.95[ASN][1000 genomes]
rs6594628	0.95[ASN][1000 genomes]
rs6594629	0.95[ASN][1000 genomes]
rs6594630	0.95[ASN][1000 genomes]
rs6594631	0.95[ASN][1000 genomes]
rs6594632	0.95[ASN][1000 genomes]
rs6594633	0.95[ASN][1000 genomes]
rs6594635	0.93[ASN][1000 genomes]
rs6594640	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6863537	0.95[ASN][1000 genomes]
rs6864143	0.84[ASN][1000 genomes]
rs7378752	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7448340	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7448452	0.95[ASN][1000 genomes]
rs7448478	0.94[ASN][1000 genomes]
rs7448522	0.95[ASN][1000 genomes]
rs7703825	0.95[ASN][1000 genomes]
rs7710128	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7713574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713733	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717646	0.95[ASN][1000 genomes]
rs7717938	0.95[ASN][1000 genomes]
rs7733473	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737751	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111912800-111915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:111915200-111915600	Enhancers	Stomach Smooth Muscle	stomach
3	chr5:111915400-111915600	Enhancers	Fetal Stomach	stomach
4	chr5:111915400-111916000	Enhancers	Fetal Heart	heart
5	chr5:111915400-111917000	Enhancers	HSMMtube	muscle

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