Variant report

Variant	rs10800469
Chromosome Location	chr1:169706083-169706084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:169706048-169706088	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169705648..169707388-chr1:169710933..169712519,2	MCF-7	breast:
2	chr1:169704931..169706505-chr1:169859799..169862220,2	K562	blood:

Variant related genes	Relation type
SELE	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1051091	0.83[EUR][1000 genomes]
rs1076637	0.84[JPT][hapmap]
rs10919227	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12131780	0.81[EUR][1000 genomes]
rs1883228	0.83[EUR][1000 genomes]
rs2205847	0.83[EUR][1000 genomes]
rs2420503	0.83[EUR][1000 genomes]
rs3766129	0.83[EUR][1000 genomes]
rs3917406	0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3917413	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3917436	0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3917444	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3917449	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4265482	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4656189	0.90[EUR][1000 genomes]
rs4656697	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4656701	0.90[EUR][1000 genomes]
rs4656703	0.90[EUR][1000 genomes]
rs4656704	0.90[EUR][1000 genomes]
rs4786	0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4987270	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4987285	0.90[EUR][1000 genomes]
rs4987318	0.90[EUR][1000 genomes]
rs5353	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs727909	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932307	0.82[CHB][hapmap];0.83[JPT][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	esv3333264	chr1:169705778-169707626	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10800469	METTL18	cis	Esophagus Mucosa	GTEx
rs10800469	METTL18	cis	Artery Tibial	GTEx
rs10800469	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs10800469	METTL18	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169703800-169707800	Weak transcription	HUVEC	blood vessel
2	chr1:169706000-169706400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:169706000-169706400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:169706000-169706400	Enhancers	Liver	Liver
5	chr1:169706000-169707000	Enhancers	HUES48 Cell Line	embryonic stem cell

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