Variant report

Variant	rs497387
Chromosome Location	chr3:23032340-23032341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs512541	0.93[EUR][1000 genomes]
rs615997	0.92[EUR][1000 genomes]
rs680110	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs680959	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs822772	0.84[EUR][1000 genomes]
rs822773	0.88[AMR][1000 genomes];0.95[EUR][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	nsv1014828	chr3:22554271-23033498	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517473	chr3:23031894-23032340	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs497387	RARB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23030000-23034200	Weak transcription	Left Ventricle	heart
2	chr3:23030200-23038200	Weak transcription	Psoas Muscle	Psoas
3	chr3:23031800-23032600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:23032000-23032600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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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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