Variant report

Variant	rs3917449
Chromosome Location	chr1:169691219-169691220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169690602..169692363-chr1:169698364..169700562,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1051091	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1076637	0.86[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs1076638	0.90[ASN][1000 genomes]
rs10800469	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10919227	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10919228	0.86[ASN][1000 genomes]
rs12027035	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs12131780	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883228	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2205847	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2205849	0.93[TSI][hapmap]
rs2420503	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2420505	0.86[CHB][hapmap]
rs28469136	0.85[ASN][1000 genomes]
rs3766129	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3917406	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3917413	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3917423	0.86[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs3917430	0.93[TSI][hapmap]
rs3917436	0.85[JPT][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3917444	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4265482	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656189	0.87[EUR][1000 genomes]
rs4656697	0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4656701	0.87[EUR][1000 genomes]
rs4656703	0.87[EUR][1000 genomes]
rs4656704	0.87[EUR][1000 genomes]
rs4786	0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4987270	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4987285	0.87[EUR][1000 genomes]
rs4987318	0.87[EUR][1000 genomes]
rs5359	0.93[TSI][hapmap]
rs727909	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs932307	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.97[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	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
rs3917449	METTL18	cis	Artery Tibial	GTEx
rs3917449	METTL18	cis	lung	GTEx
rs3917449	METTL18	cis	Esophagus Mucosa	GTEx
rs3917449	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs3917449	METTL18	cis	Thyroid	GTEx
rs3917449	METTL18	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 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	chr1:169690800-169691400	Enhancers	Dnd41	blood
3	chr1:169691200-169691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169691200-169692800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:169691200-169692800	Enhancers	Liver	Liver

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