Variant report

Variant	rs1168490
Chromosome Location	chr14:38827435-38827436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1168419	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168420	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168421	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168422	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168423	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168424	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168425	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168426	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168427	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168428	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168430	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168435	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168460	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168462	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168463	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168466	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168477	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168503	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1177558	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1182911	0.88[EUR][1000 genomes]
rs1182912	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1183880	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1183882	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1183883	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1184553	0.88[EUR][1000 genomes]
rs1754703	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17600440	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1763176	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1763177	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2812053	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs928105	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs969305	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs990495	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv530640	chr14:38702117-38927901	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901654	chr14:38822190-38870456	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2754119	chr14:38825349-38988849	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168490	FBXO33	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38825600-38828200	Enhancers	HUVEC	blood vessel
2	chr14:38826000-38827800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:38826000-38827800	Enhancers	NHDF-Ad	bronchial
4	chr14:38826200-38827600	Enhancers	NHLF	lung
5	chr14:38826400-38827600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:38826600-38827600	Enhancers	HSMMtube	muscle
7	chr14:38826600-38827600	Enhancers	NH-A	brain
8	chr14:38826800-38830200	Weak transcription	HSMM	muscle
9	chr14:38827000-38827600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:38827400-38827800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:38827400-38827800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:38827400-38834400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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