Variant report

Variant	rs6751759
Chromosome Location	chr2:63883327-63883328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10200146	0.85[ASW][hapmap]
rs11684093	0.89[AFR][1000 genomes]
rs11684973	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688997	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11694619	0.81[EUR][1000 genomes]
rs11695078	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13003009	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13013630	0.82[EUR][1000 genomes]
rs13025357	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1446568	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2166496	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2166498	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2422008	0.85[ASW][hapmap]
rs33977056	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34763417	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66873455	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67037366	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6710451	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67257875	0.82[EUR][1000 genomes]
rs67356044	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67696856	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67752811	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67987962	0.81[EUR][1000 genomes]
rs7591566	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6751759	UGP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63881000-63886800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:63881800-63885600	Weak transcription	Liver	Liver
3	chr2:63882400-63885200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:63882400-63885800	Weak transcription	NHDF-Ad	bronchial
5	chr2:63882400-63887400	Weak transcription	NHEK	skin
6	chr2:63882400-63887600	Weak transcription	HMEC	breast
7	chr2:63882600-63885200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:63882600-63890400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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