Variant report

Variant	rs6500043
Chromosome Location	chr16:59601817-59601818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10492918	0.88[EUR][1000 genomes]
rs12597033	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12709032	0.94[EUR][1000 genomes]
rs1500294	0.88[EUR][1000 genomes]
rs1500295	0.88[EUR][1000 genomes]
rs1500297	0.81[EUR][1000 genomes]
rs1566438	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1818071	0.81[EUR][1000 genomes]
rs1827203	0.88[EUR][1000 genomes]
rs2202009	0.88[EUR][1000 genomes]
rs2202010	0.88[EUR][1000 genomes]
rs2202011	0.88[EUR][1000 genomes]
rs2221183	0.88[EUR][1000 genomes]
rs28841687	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4633709	0.88[EUR][1000 genomes]
rs6500047	0.88[EUR][1000 genomes]
rs7186835	0.81[EUR][1000 genomes]
rs7190675	0.81[EUR][1000 genomes]
rs7191971	0.82[EUR][1000 genomes]
rs7192390	0.82[EUR][1000 genomes]
rs7198362	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206696	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8052045	0.88[EUR][1000 genomes]
rs8053483	0.81[AFR][1000 genomes]
rs8054889	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8056444	0.82[EUR][1000 genomes]
rs8063284	0.88[EUR][1000 genomes]
rs8063752	0.88[EUR][1000 genomes]
rs882854	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9302715	0.88[EUR][1000 genomes]
rs9302716	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9888768	0.81[EUR][1000 genomes]
rs9921279	0.86[EUR][1000 genomes]
rs9922699	0.88[EUR][1000 genomes]
rs9929021	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9933491	0.88[EUR][1000 genomes]
rs9934111	0.88[EUR][1000 genomes]
rs9937266	0.81[EUR][1000 genomes]
rs9939339	0.81[EUR][1000 genomes]
rs9939480	0.88[EUR][1000 genomes]
rs9939961	0.81[EUR][1000 genomes]
rs9940831	0.88[EUR][1000 genomes]

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	nsv906747	chr16:59385832-60172030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv916423	chr16:59411801-59750824	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv572832	chr16:59578561-59756567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6500043	FAM54A	trans	cerebellum	SCAN
rs6500043	CES7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59601400-59602000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr16:59601400-59602200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr16:59601600-59602800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr16:59601800-59602600	Enhancers	HUES6 Cell Line	embryonic stem cell

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