Variant report

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

rs_ID	r²[population]
rs10490244	0.81[ASN][1000 genomes]
rs12470518	0.81[JPT][hapmap]
rs12472743	0.85[JPT][hapmap]
rs12476530	0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12476825	0.81[YRI][hapmap]
rs12613363	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1421573	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1452773	0.85[JPT][hapmap]
rs1563026	0.83[ASW][hapmap];0.89[YRI][hapmap]
rs1563027	0.83[YRI][hapmap]
rs17039764	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17040034	0.82[CHB][hapmap]
rs17040064	0.82[CHB][hapmap]
rs2218979	0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs4971646	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6545149	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6731397	0.82[CHB][hapmap]
rs962332	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs962333	0.81[ASN][1000 genomes]
rs970896	0.89[ASW][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4971552	NRXN1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50300000-50304200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:50302000-50303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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