Variant report

Variant	rs2420503
Chromosome Location	chr1:169689289-169689290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1051091	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800469	0.83[EUR][1000 genomes]
rs10919227	0.80[EUR][1000 genomes]
rs12076368	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12079552	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12131780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883228	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883229	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1961877	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2205847	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2205849	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2229569	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35289447	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3766129	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3917406	0.94[EUR][1000 genomes]
rs3917413	0.86[EUR][1000 genomes]
rs3917430	0.89[ASN][1000 genomes]
rs3917435	0.89[ASN][1000 genomes]
rs3917436	0.87[EUR][1000 genomes]
rs3917444	0.87[EUR][1000 genomes]
rs3917449	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4265482	0.89[EUR][1000 genomes]
rs4427452	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4656189	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656697	0.87[EUR][1000 genomes]
rs4656698	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4656701	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656703	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656704	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4786	0.87[EUR][1000 genomes]
rs4987266	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4987270	0.87[EUR][1000 genomes]
rs4987285	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4987298	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4987318	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5359	0.89[ASN][1000 genomes]
rs58662634	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59807249	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6427212	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs727909	0.87[EUR][1000 genomes]
rs7513119	0.85[AFR][1000 genomes];0.91[ASN][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	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
3	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2420503	METTL18	cis	Adipose Subcutaneous	GTEx
rs2420503	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs2420503	METTL18	cis	Artery Tibial	GTEx
rs2420503	METTL18	cis	lung	GTEx
rs2420503	METTL18	cis	Thyroid	GTEx
rs2420503	METTL18	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169681200-169692000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:169681400-169691200	Weak transcription	Liver	Liver

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