Variant report

Variant	rs3917406
Chromosome Location	chr1:169702278-169702279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489182	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1051091	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1076637	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1076638	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10800469	0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10800475	0.85[ASN][1000 genomes]
rs10919227	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10919228	0.93[ASN][1000 genomes]
rs10919235	0.85[ASN][1000 genomes]
rs11581380	0.86[ASN][1000 genomes]
rs12027035	0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12131780	0.92[EUR][1000 genomes]
rs1883228	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2205847	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2420503	0.94[EUR][1000 genomes]
rs2420505	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs28469136	0.93[ASN][1000 genomes]
rs3766129	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3917413	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3917423	0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3917436	0.94[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917444	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3917449	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4265482	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656189	0.86[EUR][1000 genomes]
rs4656697	0.94[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4656701	0.86[EUR][1000 genomes]
rs4656703	0.86[EUR][1000 genomes]
rs4656704	0.86[EUR][1000 genomes]
rs4786	0.94[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987270	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4987285	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4987318	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs5353	0.94[CEU][hapmap];0.90[JPT][hapmap]
rs6673493	0.85[ASN][1000 genomes]
rs67193278	0.86[ASN][1000 genomes]
rs727909	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs932307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]

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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3917406	METTL18	cis	lung	GTEx
rs3917406	METTL18	cis	Esophagus Mucosa	GTEx
rs3917406	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs3917406	METTL18	cis	Esophagus Muscularis	GTEx
rs3917406	METTL18	cis	Artery Tibial	GTEx
rs3917406	METTL18	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169701800-169702400	Enhancers	HMEC	breast

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