Variant report

Variant	rs6726636
Chromosome Location	chr2:190517821-190517822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs16831821	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56137655	0.83[EUR][1000 genomes]
rs62183651	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183652	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62183653	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183656	0.83[EUR][1000 genomes]
rs62183657	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183658	0.82[EUR][1000 genomes]
rs62183659	0.83[EUR][1000 genomes]
rs62185869	0.83[EUR][1000 genomes]
rs62185872	0.81[EUR][1000 genomes]
rs72920421	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv979380	chr2:190507595-190520005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6726636	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs6726636	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs6726636	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs6726636	ORMDL1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190506800-190522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190514800-190525600	Weak transcription	NHLF	lung

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