Variant report

Variant	rs4380548
Chromosome Location	chr4:80033032-80033033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:80032018..80033796-chr4:80556626..80558164,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10005541	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10025923	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11935485	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11936119	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11941744	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1455302	0.88[EUR][1000 genomes]
rs2124243	0.88[EUR][1000 genomes]
rs34421130	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4296696	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4406043	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4583784	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4588482	0.96[EUR][1000 genomes]
rs56723253	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58453514	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58870974	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60896670	0.90[EUR][1000 genomes]
rs62308755	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62308756	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62308757	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62308758	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72662682	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7661185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7666610	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7684699	0.84[EUR][1000 genomes]
rs7693420	0.93[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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80031800-80033600	Weak transcription	Aorta	Aorta

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