Variant report

Variant	rs12433067
Chromosome Location	chr14:33089282-33089283
allele	G/T
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]
rs10129321	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135558	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139992	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10140278	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10143113	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10147330	0.90[YRI][hapmap]
rs10483411	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs10483412	0.82[JPT][hapmap]
rs10782379	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627076	0.84[AMR][1000 genomes]
rs11627900	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147120	0.81[AMR][1000 genomes]
rs12437429	0.90[GIH][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1569976	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1956201	0.81[CEU][hapmap]
rs1956220	0.86[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap]
rs7153041	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs7154943	0.86[CEU][hapmap]
rs7160301	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12433067	NUBPL	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
3	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
6	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:33081200-33089600	Weak transcription	Fetal Heart	heart
8	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:33081600-33090200	Weak transcription	HSMMtube	muscle
10	chr14:33081600-33091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:33081600-33091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:33089000-33089800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:33089200-33089800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:33089200-33090200	Enhancers	NHDF-Ad	bronchial
15	chr14:33089200-33091000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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