Variant report

Variant	rs2164252
Chromosome Location	chr2:190818454-190818455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10931436	0.96[EUR][1000 genomes]
rs10931437	0.96[EUR][1000 genomes]
rs11694671	0.90[ASW][hapmap];0.81[CEU][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12465163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12693559	0.93[EUR][1000 genomes]
rs1474359	0.85[GIH][hapmap]
rs2168058	0.97[EUR][1000 genomes]
rs34806740	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55786820	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6749277	0.80[EUR][1000 genomes]
rs6761221	1.00[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7608094	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2164252	PMS1	cis	parietal	SCAN
rs2164252	FSIP2	cis	cerebellum	SCAN
rs2164252	PMS1	cis	cerebellum	SCAN
rs2164252	ASNSD1	cis	cerebellum	SCAN
rs2164252	ORMDL1	cis	lymphoblastoid	seeQTL
rs2164252	ORMDL1	cis	multi-tissue	Pritchard
rs2164252	ORMDL1	cis	Lymphoblastoid	GTEx

Chromatin state (count:4 , 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	chr2:190816400-190819000	Enhancers	Primary B cells from cord blood	blood
3	chr2:190817200-190818800	Weak transcription	A549	lung
4	chr2:190818000-190820000	Enhancers	GM12878-XiMat	blood

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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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