Variant report

Variant	rs10463833
Chromosome Location	chr5:127122312-127122313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10463500	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10463830	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10463831	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12513840	1.00[EUR][1000 genomes]
rs12520720	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12522308	1.00[EUR][1000 genomes]
rs12523504	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1515641	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17696654	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17696932	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17764290	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1897524	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966643	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280170	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs35890477	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836331	1.00[EUR][1000 genomes]
rs4836333	1.00[EUR][1000 genomes]
rs57808867	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6877039	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs73345063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707416	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7714051	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722425	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7729470	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9686108	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9688160	1.00[EUR][1000 genomes];0.90[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	23527680	GWAS catalog

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127120000-127123000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:127120600-127122600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:127120800-127122800	Bivalent Enhancer	NH-A	brain
4	chr5:127121200-127122400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:127121400-127122800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:127121400-127125400	Weak transcription	Stomach Mucosa	stomach
7	chr5:127122000-127124200	Weak transcription	NHDF-Ad	bronchial

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