Variant report

Variant	rs4618242
Chromosome Location	chr3:81965535-81965536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10779987	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1851926	0.80[AMR][1000 genomes]
rs1851928	0.80[AMR][1000 genomes]
rs1969433	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4479620	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4605572	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4622918	0.86[EUR][1000 genomes]
rs6548779	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6797240	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9820349	0.87[EUR][1000 genomes]
rs9854004	0.86[EUR][1000 genomes]
rs9870954	0.80[AMR][1000 genomes]
rs9877408	0.80[AMR][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	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4618242	GBE1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81963000-81966800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:81963800-81969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:81965200-81970200	Weak transcription	Fetal Heart	heart
4	chr3:81965200-81971400	Weak transcription	HUES64 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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