Variant report

Variant	rs10483920
Chromosome Location	chr14:79436470-79436471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10135271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483919	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12886900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12890815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12895928	0.87[EUR][1000 genomes]
rs12897049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs150775	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs154326	1.00[JPT][hapmap]
rs1549265	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17108418	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17757879	1.00[MKK][hapmap]
rs17757946	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17757966	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17757972	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17757990	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17758002	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17758014	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17758056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs17835842	1.00[JPT][hapmap]
rs17835893	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17835908	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17835914	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs257211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs31431	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs31444	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs31451	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34495944	1.00[AFR][1000 genomes]
rs34559943	0.85[EUR][1000 genomes]
rs34943490	0.82[ASN][1000 genomes]
rs39601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs71414773	0.87[EUR][1000 genomes]
rs71414775	0.85[EUR][1000 genomes]
rs71414776	0.83[EUR][1000 genomes]
rs718787	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.82[ASN][1000 genomes]
rs988387	0.90[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	nsv832838	chr14:79306627-79445382	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10483920	C14orf118	cis	parietal	SCAN
rs10483920	RPS6KL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79426600-79437200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:79426600-79437400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:79431200-79437200	Weak transcription	GM12878-XiMat	blood
4	chr14:79433600-79436600	Enhancers	Osteobl	bone
5	chr14:79434000-79436800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:79434800-79441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:79436000-79436600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:79436000-79436800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:79436000-79437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:79436000-79437200	Enhancers	HUVEC	blood vessel
11	chr14:79436000-79440600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:79436200-79437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:79436200-79437400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:79436200-79438600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:79436400-79440800	Weak transcription	NH-A	brain

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