Variant report

Variant	rs483109
Chromosome Location	chr2:169751556-169751557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2632372	0.80[ASN][1000 genomes]
rs2632382	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs493816	0.83[EUR][1000 genomes]
rs554494	0.81[EUR][1000 genomes]
rs844213	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs483109	GORASP2	cis	cerebellum	SCAN
rs483109	SPC25	Cis_1M	lymphoblastoid	RTeQTL
rs483109	GALNT3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169747000-169757600	Weak transcription	Pancreas	Pancrea
2	chr2:169747600-169751600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:169747600-169753200	Weak transcription	K562	blood
4	chr2:169751000-169752600	Enhancers	Liver	Liver

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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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