Variant report

Variant	rs4383483
Chromosome Location	chr3:111555682-111555683
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10212121	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10804493	0.88[EUR][1000 genomes]
rs10934112	0.93[JPT][hapmap]
rs10934114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711475	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs12490718	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12695246	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs1282931	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs1282932	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1282970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1282975	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs1282977	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs13063024	0.93[EUR][1000 genomes]
rs13063315	0.93[EUR][1000 genomes]
rs13083516	0.91[EUR][1000 genomes]
rs13101043	0.92[EUR][1000 genomes]
rs17490346	1.00[JPT][hapmap]
rs1913493	0.91[EUR][1000 genomes]
rs1913494	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs3925080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4381907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626131	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7638138	0.86[EUR][1000 genomes]
rs937553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967011	0.91[EUR][1000 genomes]
rs9827362	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9841149	1.00[JPT][hapmap]
rs9842341	1.00[JPT][hapmap]
rs9846313	0.92[EUR][1000 genomes]
rs9851613	0.93[JPT][hapmap]
rs9854765	1.00[JPT][hapmap]
rs9865074	1.00[JPT][hapmap]
rs9872438	1.00[JPT][hapmap]
rs9883806	0.96[CEU][hapmap];0.93[EUR][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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4383483	PHLDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111544400-111556800	Weak transcription	Liver	Liver
3	chr3:111547600-111556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:111551200-111556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:111551400-111564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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