Variant report

Variant	rs11684699
Chromosome Location	chr2:190800958-190800959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11895934	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11900530	0.85[EUR][1000 genomes]
rs16832209	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35299577	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56208642	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6760285	0.84[EUR][1000 genomes]
rs72905390	0.95[EUR][1000 genomes]
rs72905399	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72905401	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72907308	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72907398	0.86[EUR][1000 genomes]
rs72907401	0.86[EUR][1000 genomes]
rs7564968	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11684699	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs11684699	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190797600-190801000	Enhancers	NHEK	skin
2	chr2:190800600-190801200	Enhancers	NHLF	lung
3	chr2:190800800-190802200	Weak transcription	HSMM	muscle
4	chr2:190800800-190804400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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