Variant report

Variant	rs12693559
Chromosome Location	chr2:190817466-190817467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1036375	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1036376	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10931436	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931437	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12465163	0.92[EUR][1000 genomes]
rs16832254	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2164252	0.93[EUR][1000 genomes]
rs2168058	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34806740	0.82[EUR][1000 genomes]
rs55786820	0.80[EUR][1000 genomes]
rs6761221	0.82[EUR][1000 genomes]
rs7608094	0.94[EUR][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	nsv875618	chr2:190789387-190883360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12693559	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190816000-190818800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:190816200-190818000	Enhancers	HUVEC	blood vessel
3	chr2:190816400-190819000	Enhancers	Primary B cells from cord blood	blood
4	chr2:190817200-190817800	Active TSS	GM12878-XiMat	blood
5	chr2:190817200-190818800	Weak transcription	A549	lung

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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

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