Variant report

Variant	rs7577644
Chromosome Location	chr2:190518463-190518464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12471663	0.83[EUR][1000 genomes]
rs4667296	0.81[EUR][1000 genomes]
rs61487110	0.81[EUR][1000 genomes]
rs6756571	0.82[EUR][1000 genomes]
rs6756913	0.83[EUR][1000 genomes]
rs6761923	0.83[EUR][1000 genomes]
rs7568449	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv979380	chr2:190507595-190520005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7577644	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7577644	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7577644	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs7577644	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs7577644	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190506800-190522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190514800-190525600	Weak transcription	NHLF	lung

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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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