Variant report

Variant	rs13254748
Chromosome Location	chr8:61373597-61373598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10088058	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10101758	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10107773	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10108568	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111967	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13271668	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13272533	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13277273	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278073	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13438846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926232	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1893278	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1941464	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068589	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28484871	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28576477	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28897378	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35907640	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3886101	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56073139	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs623910	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs62510180	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs646871	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471876	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6994818	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7002036	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7002467	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820186	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7821955	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7841536	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13254748	UBXN2B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61369400-61375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61369600-61374200	Weak transcription	NHEK	skin
3	chr8:61369600-61379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:61370600-61379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:61371600-61375400	Enhancers	Fetal Brain Male	brain
6	chr8:61372000-61375200	Weak transcription	Fetal Lung	lung
7	chr8:61373000-61373800	Weak transcription	Fetal Brain Female	brain

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