Variant report

Variant	rs4518439
Chromosome Location	chr5:90557920-90557921
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90555805..90566288-chr5:90673548..90682139,22	K562	blood:
2	chr5:90557255..90560659-chr5:90676944..90680973,5	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10038090	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10061355	0.85[ASN][1000 genomes]
rs10462343	0.86[ASN][1000 genomes]
rs10462492	0.85[ASN][1000 genomes]
rs10474346	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10474347	0.87[ASN][1000 genomes]
rs12697807	0.87[ASN][1000 genomes]
rs13171635	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1511344	0.83[EUR][1000 genomes]
rs1511345	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1543066	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1858309	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2048451	0.90[ASN][1000 genomes]
rs2048452	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2973441	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4019243	0.80[EUR][1000 genomes]
rs4019302	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4364415	0.90[ASN][1000 genomes]
rs4377733	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4424024	0.86[ASN][1000 genomes]
rs6859170	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6869552	0.82[ASN][1000 genomes]
rs6882172	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6885341	0.90[ASN][1000 genomes]
rs6888389	0.89[ASN][1000 genomes]
rs6888674	0.89[ASN][1000 genomes]
rs6889197	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6897578	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898622	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7709572	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719516	0.92[ASN][1000 genomes]
rs7724489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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