Variant report

Variant	rs13091492
Chromosome Location	chr3:81891476-81891477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11711024	0.83[EUR][1000 genomes]
rs11715625	0.83[EUR][1000 genomes]
rs12152272	0.83[EUR][1000 genomes]
rs13062741	0.84[EUR][1000 genomes]
rs13073613	0.84[EUR][1000 genomes]
rs13075250	0.81[EUR][1000 genomes]
rs13079104	0.84[EUR][1000 genomes]
rs1464791	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524557	0.82[EUR][1000 genomes]
rs1851930	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691093	0.82[ASN][1000 genomes]
rs2873054	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765917	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6792696	0.84[EUR][1000 genomes]
rs6804587	0.84[EUR][1000 genomes]
rs7641973	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7648245	0.83[EUR][1000 genomes]
rs9820349	0.80[AMR][1000 genomes]
rs9841087	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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
rs13091492	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81886600-81891600	Enhancers	Dnd41	blood
2	chr3:81889200-81894800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:81889400-81895800	Weak transcription	Psoas Muscle	Psoas
4	chr3:81890200-81892000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:81890400-81891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:81890800-81891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:81891200-81891600	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:81891400-81891600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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