Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1112983	0.86[ASN][1000 genomes]
rs12466695	0.86[ASN][1000 genomes]
rs12470779	0.99[EUR][1000 genomes]
rs12478609	0.90[EUR][1000 genomes]
rs12613660	0.98[EUR][1000 genomes]
rs12623916	0.97[EUR][1000 genomes]
rs12989813	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12990145	0.94[EUR][1000 genomes]
rs13032189	0.80[EUR][1000 genomes]
rs1541889	0.84[EUR][1000 genomes]
rs1583216	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1583217	0.92[EUR][1000 genomes]
rs1653420	0.86[ASN][1000 genomes]
rs16853648	0.83[EUR][1000 genomes]
rs1730713	0.86[ASN][1000 genomes]
rs1730725	0.83[EUR][1000 genomes]
rs1919851	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1919855	0.86[ASN][1000 genomes]
rs1983514	0.86[ASN][1000 genomes]
rs2052982	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2052984	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs34653091	0.94[EUR][1000 genomes]
rs4667955	0.83[EUR][1000 genomes]
rs59149606	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6433000	0.86[ASN][1000 genomes]
rs6731834	0.98[EUR][1000 genomes]
rs67321550	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9287883	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv978952	chr2:168378198-168383739	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1431908	GALNT3	cis	cerebellum	SCAN
rs1431908	SP5	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168366600-168384800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168367000-168385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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