Variant report

Variant	rs424258
Chromosome Location	chr5:111857664-111857665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13170603	0.80[EUR][1000 genomes]
rs163449	0.82[ASN][1000 genomes]
rs163451	0.80[ASN][1000 genomes]
rs163452	0.80[ASN][1000 genomes]
rs163453	0.80[ASN][1000 genomes]
rs189296	0.80[ASN][1000 genomes]
rs255703	0.92[ASN][1000 genomes]
rs255706	0.92[ASN][1000 genomes]
rs338845	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs338847	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs338855	0.85[ASN][1000 genomes]
rs338857	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111855600-111859400	Enhancers	Primary B cells from cord blood	blood
2	chr5:111857000-111857800	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr5:111857200-111858400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:111857200-111858400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:111857600-111858000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:111857600-111858200	Flanking Active TSS	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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