Variant report

Variant	rs12188451
Chromosome Location	chr5:151981696-151981697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12153605	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171648	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454604	1.00[ASN][1000 genomes]
rs17454632	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274502	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767836	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814004	1.00[ASN][1000 genomes]
rs34839589	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34941181	1.00[ASN][1000 genomes]
rs34962096	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35458863	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706568	1.00[ASN][1000 genomes]
rs35974504	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413521	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71588055	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719628	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12188451	PCYOX1L	cis	cerebellum	SCAN
rs12188451	GPX3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151975600-151985800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:151980800-151982400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:151981000-151982000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:151981200-151982000	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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