Variant report

Variant	rs9288930
Chromosome Location	chr3:111538899-111538900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10934110	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10934116	0.86[CHD][hapmap]
rs11711475	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11717092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs12637888	0.82[CHB][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12695246	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs4353782	0.85[ASN][1000 genomes]
rs4373041	0.81[ASN][1000 genomes]
rs4411859	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4472023	0.82[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs4515020	0.85[ASN][1000 genomes]
rs4610200	0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4682063	0.95[ASN][1000 genomes]
rs6438015	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6438016	0.85[ASN][1000 genomes]
rs6438018	1.00[ASN][1000 genomes]
rs6772828	0.80[ASN][1000 genomes]
rs6772912	0.80[ASN][1000 genomes]
rs6772930	0.80[ASN][1000 genomes]
rs6794180	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs6809414	0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7634323	0.85[ASN][1000 genomes]
rs9814037	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9816926	0.83[JPT][hapmap]
rs9817633	0.90[ASN][1000 genomes]
rs9817777	0.87[JPT][hapmap]
rs9829968	1.00[ASN][1000 genomes]
rs9837252	0.83[ASN][1000 genomes]
rs9871340	0.89[ASN][1000 genomes]
rs9876709	0.83[CHB][hapmap];0.86[GIH][hapmap]

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
rs9288930	PHLDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111533000-111542800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:111536600-111539000	Weak transcription	Stomach Mucosa	stomach
3	chr3:111536600-111541800	Weak transcription	Gastric	stomach
4	chr3:111537800-111539000	ZNF genes & repeats	Liver	Liver
5	chr3:111538400-111539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:111538400-111539600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:111538800-111539200	Enhancers	HepG2	liver
8	chr3:111538800-111541600	Enhancers	Fetal Heart	heart

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