Variant report

Variant	rs12549538
Chromosome Location	chr8:78219154-78219155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10111141	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10957848	0.82[EUR][1000 genomes]
rs11992358	0.84[EUR][1000 genomes]
rs11996965	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13253347	0.82[EUR][1000 genomes]
rs2138144	0.83[JPT][hapmap]
rs4272350	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4302821	0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs4329252	1.00[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs4366059	0.84[EUR][1000 genomes]
rs4469432	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4472487	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4496944	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4526336	0.83[JPT][hapmap]
rs6473022	1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs6998601	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7816753	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7833915	0.82[EUR][1000 genomes]
rs7842863	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891045	chr8:77998659-78477561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv611566	chr8:78126326-78245535	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427822	chr8:78132650-78245590	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12549538	PI15	cis	cerebellum	SCAN
rs12549538	FBXO42	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78213800-78220600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:78213800-78221200	Weak transcription	Muscle Satellite Cultured Cells	--

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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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