Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2078022	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2243710	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs3818380	0.88[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4054546	0.80[JPT][hapmap]
rs4943438	0.86[JPT][hapmap]
rs4943439	0.86[JPT][hapmap]
rs4943440	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs7336575	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8000946	0.86[JPT][hapmap]
rs9531997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9532003	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs954370	0.86[JPT][hapmap]
rs9547708	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9547709	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9547711	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9547713	0.96[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs9576144	0.90[CHB][hapmap];0.87[JPT][hapmap];0.98[ASN][1000 genomes]
rs9576151	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs9576167	0.85[JPT][hapmap]
rs9603126	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.85[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9315455	ALG5	cis	parietal	SCAN
rs9315455	EXOSC8	cis	parietal	SCAN
rs9315455	ALG5	Cis_1M	lymphoblastoid	RTeQTL
rs9315455	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37515400-37533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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