Variant report

Variant	rs1120564
Chromosome Location	chr5:147606425-147606426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10038416	0.82[TSI][hapmap]
rs10042764	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10045567	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs10477364	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.93[ASN][1000 genomes]
rs1124209	0.82[CEU][hapmap];0.86[ASN][1000 genomes]
rs1158938	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12186491	0.87[TSI][hapmap]
rs12654024	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1368304	1.00[CHD][hapmap];0.90[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1368314	0.86[ASN][1000 genomes]
rs1432697	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583279	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1583280	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1583281	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1583282	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583283	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17107992	0.87[TSI][hapmap]
rs2400502	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2400503	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915793	0.86[ASN][1000 genomes]
rs2915794	0.86[ASN][1000 genomes]
rs62388553	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580537	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580538	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724807	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325089	0.81[EUR][1000 genomes];0.86[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	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
2	esv3349775	chr5:147603659-147606857	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1120564	POU3F1	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147605200-147608200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:147605800-147608400	Weak transcription	Hela-S3	cervix

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