Variant report

Variant	rs2168058
Chromosome Location	chr2:190818878-190818879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1036375	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1036376	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10931436	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931437	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694671	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs11895934	0.81[ASN][1000 genomes]
rs12465163	0.94[EUR][1000 genomes]
rs12693559	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474359	0.85[GIH][hapmap]
rs16832254	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2164252	0.97[EUR][1000 genomes]
rs34806740	0.89[EUR][1000 genomes]
rs55786820	0.82[EUR][1000 genomes]
rs6761221	0.81[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs72907308	0.81[ASN][1000 genomes]
rs7564968	0.81[ASN][1000 genomes]
rs7608094	0.95[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2168058	PMS1	cis	cerebellum	SCAN
rs2168058	PMS1	cis	parietal	SCAN
rs2168058	ASNSD1	cis	cerebellum	SCAN
rs2168058	ORMDL1	cis	multi-tissue	Pritchard
rs2168058	FSIP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190816400-190819000	Enhancers	Primary B cells from cord blood	blood
2	chr2:190818000-190820000	Enhancers	GM12878-XiMat	blood
3	chr2:190818800-190819800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:190818800-190820000	Enhancers	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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