Variant report

Variant	rs8069448
Chromosome Location	chr17:63448326-63448327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12601753	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12947579	0.83[EUR][1000 genomes]
rs4791188	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7207157	0.81[AMR][1000 genomes]
rs7224031	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8069284	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9908987	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9909376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909481	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9910104	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9910440	0.80[AMR][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	nsv1056195	chr17:63439524-63512389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8069448	FTSJ3	cis	parietal	SCAN
rs8069448	APPBP2	cis	parietal	SCAN
rs8069448	AMZ2P1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63446800-63450000	Weak transcription	H1 Cell Line	embryonic stem cell

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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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