Variant report

Variant	rs1583280
Chromosome Location	chr5:147625748-147625749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10042764	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10045567	0.82[CEU][hapmap]
rs10463282	0.83[EUR][1000 genomes]
rs10477364	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1120564	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1124209	0.82[CEU][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1158938	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12654024	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13179719	0.83[EUR][1000 genomes]
rs1368304	1.00[CHD][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1368314	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432697	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432701	0.83[EUR][1000 genomes]
rs1583279	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1583281	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1583282	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1583283	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897534	0.83[EUR][1000 genomes]
rs2400502	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2400503	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915793	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915794	0.93[ASN][1000 genomes]
rs2963728	0.81[EUR][1000 genomes]
rs4470757	0.83[EUR][1000 genomes]
rs62388553	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6580537	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580538	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7443321	1.00[ASW][hapmap]
rs7715043	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7724807	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7726415	0.83[EUR][1000 genomes]
rs9325089	0.84[EUR][1000 genomes];0.93[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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1583280	POU3F1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147618800-147647600	Weak transcription	Hela-S3	cervix

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