Variant report

Variant	rs4958069
Chromosome Location	chr5:111922143-111922144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10052730	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10052739	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10066425	0.95[ASN][1000 genomes]
rs10067709	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742518	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11747396	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12110086	0.91[ASN][1000 genomes]
rs12516949	0.81[ASN][1000 genomes]
rs12518872	0.95[ASN][1000 genomes]
rs13185746	0.91[ASN][1000 genomes]
rs4073304	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073305	0.91[ASN][1000 genomes]
rs4073306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4246013	0.94[ASN][1000 genomes]
rs4362986	0.94[ASN][1000 genomes]
rs4415120	0.94[ASN][1000 genomes]
rs4469237	0.94[ASN][1000 genomes]
rs4957652	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957653	0.96[ASN][1000 genomes]
rs4957654	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957655	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957657	0.90[ASN][1000 genomes]
rs4958063	0.94[ASN][1000 genomes]
rs4958065	0.94[ASN][1000 genomes]
rs4958067	0.95[ASN][1000 genomes]
rs62365791	0.90[ASN][1000 genomes]
rs6421845	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6594619	0.96[ASN][1000 genomes]
rs6594625	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6594627	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594628	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594629	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594630	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594631	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594632	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594633	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594635	0.89[ASN][1000 genomes]
rs6594640	0.87[ASN][1000 genomes]
rs6863537	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864143	0.81[ASN][1000 genomes]
rs7378752	0.81[ASN][1000 genomes]
rs7448340	0.91[ASN][1000 genomes]
rs7448452	0.91[ASN][1000 genomes]
rs7448478	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7448522	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7703825	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7710128	0.81[ASN][1000 genomes]
rs7713574	0.95[ASN][1000 genomes]
rs7713733	0.95[ASN][1000 genomes]
rs7717646	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7717938	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733473	0.90[ASN][1000 genomes]
rs7737751	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	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
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111919600-111922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:111921200-111922600	Weak transcription	Fetal Heart	heart
3	chr5:111921800-111922600	Flanking Active TSS	K562	blood
4	chr5:111921800-111922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:111921800-111922800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:111921800-111922800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:111922000-111922200	Enhancers	HepG2	liver
8	chr5:111922000-111922800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:111922000-111922800	Enhancers	Primary B cells from peripheral blood	blood

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