Variant report

Variant	rs11900530
Chromosome Location	chr2:190890062-190890063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1036375	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1036376	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11684699	0.85[EUR][1000 genomes]
rs11895934	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16832209	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16832254	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35299577	0.80[EUR][1000 genomes]
rs56208642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6760285	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905390	0.86[EUR][1000 genomes]
rs72905399	0.89[EUR][1000 genomes]
rs72905401	0.88[EUR][1000 genomes]
rs72907308	0.88[EUR][1000 genomes]
rs72907398	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907401	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564968	0.88[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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11900530	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs11900530	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190884400-190893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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