Variant report

Variant	rs4598240
Chromosome Location	chr8:58624978-58624979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10957018	0.93[EUR][1000 genomes]
rs4131858	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4374979	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4380930	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4532583	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4549756	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4593530	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4639502	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4738608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471641	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005279	0.86[AMR][1000 genomes];0.93[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	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv890937	chr8:58600994-58695807	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4598240	RAB2A	cis	cerebellum	SCAN
rs4598240	TMEM68	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58624000-58626000	Weak transcription	Fetal Lung	lung
2	chr8:58624600-58625000	Enhancers	Fetal Brain Female	brain

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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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