Variant report

Variant	rs262248
Chromosome Location	chr3:68405259-68405260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1388500	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[YRI][hapmap]
rs1388505	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1491745	0.81[GIH][hapmap]
rs1491753	0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1510354	0.83[ASW][hapmap];0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap]
rs2220667	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs262210	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs262211	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs262214	0.88[CEU][hapmap]
rs262215	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[YRI][hapmap]
rs262218	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs262223	0.80[EUR][1000 genomes]
rs262224	0.80[EUR][1000 genomes]
rs262228	0.80[EUR][1000 genomes]
rs262229	0.80[EUR][1000 genomes]
rs262231	0.80[EUR][1000 genomes]
rs262246	0.81[EUR][1000 genomes]
rs262247	0.81[EUR][1000 genomes]
rs262249	0.81[TSI][hapmap]
rs262250	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4855463	0.81[EUR][1000 genomes]
rs6549118	0.85[YRI][hapmap]
rs7613895	0.89[CEU][hapmap];0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752014	chr3:68091879-68416989	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv834721	chr3:68365963-68526394	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv590562	chr3:68393781-68422687	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	nsv590563	chr3:68402933-68422687	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs262248	UBA3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68403200-68407800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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