Variant report

Variant	rs6765917
Chromosome Location	chr3:81891116-81891117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11710970	0.91[CEU][hapmap]
rs11711024	0.89[EUR][1000 genomes]
rs11711331	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs11915042	0.85[EUR][1000 genomes]
rs12152272	0.89[EUR][1000 genomes]
rs12495343	0.84[ASN][1000 genomes]
rs12635671	0.82[ASN][1000 genomes]
rs13062741	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13073613	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13075250	0.86[EUR][1000 genomes]
rs13079104	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs13088000	0.85[EUR][1000 genomes]
rs13091492	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13092157	0.84[EUR][1000 genomes]
rs1464790	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1464791	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1524557	0.88[EUR][1000 genomes]
rs1851930	0.83[EUR][1000 genomes]
rs2691093	0.86[ASN][1000 genomes]
rs2873054	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772882	0.91[CEU][hapmap]
rs3772883	0.91[CEU][hapmap]
rs3772896	0.91[CEU][hapmap]
rs3772912	0.91[CEU][hapmap]
rs3821548	0.91[CEU][hapmap]
rs3849570	0.95[CEU][hapmap]
rs3849571	0.92[CEU][hapmap]
rs3860595	0.91[CEU][hapmap]
rs4411908	0.91[CEU][hapmap]
rs4622918	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6548773	0.85[EUR][1000 genomes]
rs7620240	0.91[CEU][hapmap]
rs7631052	0.82[EUR][1000 genomes]
rs7641973	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7648245	0.89[EUR][1000 genomes]
rs9817181	0.83[EUR][1000 genomes]
rs9820349	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9826270	0.85[EUR][1000 genomes]
rs9841087	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842330	0.81[EUR][1000 genomes]
rs9854004	0.82[AMR][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
rs6765917	GBE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81886600-81891600	Enhancers	Dnd41	blood
2	chr3:81888600-81891400	Enhancers	Fetal Heart	heart
3	chr3:81889200-81894800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:81889400-81891400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:81889400-81895800	Weak transcription	Psoas Muscle	Psoas
6	chr3:81890200-81892000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:81890400-81891200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:81890400-81891400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:81890400-81891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:81890800-81891400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:81890800-81891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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