Variant report

Variant	rs10069134
Chromosome Location	chr5:111821649-111821650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10060269	0.95[ASN][1000 genomes]
rs10060831	0.87[EUR][1000 genomes]
rs10064693	0.84[ASN][1000 genomes]
rs10071182	0.89[ASN][1000 genomes]
rs1019473	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12189437	0.94[CEU][hapmap]
rs1318178	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs17347283	0.94[CEU][hapmap]
rs17354763	0.81[EUR][1000 genomes]
rs17354833	0.89[EUR][1000 genomes]
rs2067096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650579	0.81[EUR][1000 genomes]
rs55712004	0.89[EUR][1000 genomes]
rs6594599	0.88[EUR][1000 genomes]
rs67638655	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6882162	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6894395	0.88[EUR][1000 genomes]
rs7716394	1.00[JPT][hapmap]

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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10069134	PJA2	cis	parietal	SCAN
rs10069134	EPB41L4A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111821000-111822400	Enhancers	HUVEC	blood vessel
2	chr5:111821600-111822200	Enhancers	HepG2	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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