Variant report

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

rs_ID	r²[population]
rs2274047	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2274048	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2328950	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4884005	0.84[ASN][1000 genomes]
rs55742020	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7332334	0.90[ASN][1000 genomes]
rs8192757	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs8192761	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9530451	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9530452	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9543963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9543964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9543986	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9543995	0.82[CHB][hapmap]
rs9544001	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9544003	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9544006	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9573582	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9593088	0.84[ASN][1000 genomes]
rs9593090	0.84[ASN][1000 genomes]
rs9600483	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600487	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs9652173	0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2328949	UCHL3	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76082600-76095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76089000-76099400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr13:76089000-76104800	Weak transcription	NHDF-Ad	bronchial
4	chr13:76089200-76099400	Weak transcription	Dnd41	blood

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