Variant report

Variant	rs35299577
Chromosome Location	chr2:190800027-190800028
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11684699	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11895934	0.90[EUR][1000 genomes]
rs11900530	0.80[EUR][1000 genomes]
rs16832209	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56208642	0.89[EUR][1000 genomes]
rs72905390	0.89[EUR][1000 genomes]
rs72905399	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72905401	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72907308	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72907398	0.82[EUR][1000 genomes]
rs72907401	0.82[EUR][1000 genomes]
rs7564968	0.82[AMR][1000 genomes];0.90[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35299577	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs35299577	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190797400-190800800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:190797600-190800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:190797600-190800800	Enhancers	HSMM	muscle
4	chr2:190797600-190800800	Enhancers	NHDF-Ad	bronchial
5	chr2:190797600-190801000	Enhancers	NHEK	skin
6	chr2:190797800-190800600	Enhancers	Osteobl	bone
7	chr2:190798200-190800600	Weak transcription	NHLF	lung
8	chr2:190799000-190800800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:190799200-190800600	Enhancers	A549	lung
10	chr2:190799600-190800800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:190799600-190800800	Enhancers	HSMMtube	muscle

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

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