Variant report

Variant	rs34990593
Chromosome Location	chr1:169733867-169733868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10489181	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10489182	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10919232	0.95[ASN][1000 genomes]
rs10919233	0.95[ASN][1000 genomes]
rs12023614	0.91[ASN][1000 genomes]
rs12034880	0.81[ASN][1000 genomes]
rs12044082	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16862663	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2272818	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2420505	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4265482	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4656192	0.91[ASN][1000 genomes]
rs7520701	0.92[ASN][1000 genomes]
rs7523319	0.92[ASN][1000 genomes]
rs7543268	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34990593	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs34990593	METTL18	cis	Thyroid	GTEx
rs34990593	METTL18	cis	Esophagus Mucosa	GTEx
rs34990593	METTL18	cis	Artery Tibial	GTEx
rs34990593	METTL18	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169732600-169735000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:169733200-169734400	Weak transcription	Rectal Mucosa Donor 31	rectum

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links