Variant report

Variant	rs17108418
Chromosome Location	chr14:79426223-79426224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79425453..79426658-chr14:81316149..81316920,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10135271	1.00[JPT][hapmap]
rs10483919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10483920	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]
rs12886900	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12890815	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12895928	0.86[EUR][1000 genomes]
rs12897049	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs150775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs154326	1.00[JPT][hapmap]
rs1549265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17757946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17757966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17757972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17757990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758014	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17758056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17835842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17835893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17835908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17835914	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs257211	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs31431	0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs31444	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs31451	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs34559943	0.84[EUR][1000 genomes]
rs34943490	0.91[ASN][1000 genomes]
rs39601	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs71414773	0.86[EUR][1000 genomes]
rs71414775	0.84[EUR][1000 genomes]
rs71414776	0.82[EUR][1000 genomes]
rs718787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs988387	1.00[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
rs17108418	RPS6KL1	cis	cerebellum	SCAN
rs17108418	C14orf118	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79416800-79436000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:79425800-79427000	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:79426200-79426400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:79426200-79426400	Active TSS	Muscle Satellite Cultured Cells	--
5	chr14:79426200-79426400	Active TSS	Fetal Lung	lung
6	chr14:79426200-79426400	Active TSS	HSMM	muscle
7	chr14:79426200-79426400	Active TSS	Osteobl	bone
8	chr14:79426200-79426600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:79426200-79426600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:79426200-79426600	Enhancers	Adipose Nuclei	Adipose
11	chr14:79426200-79426600	Active TSS	Brain Angular Gyrus	brain
12	chr14:79426200-79426600	Active TSS	Brain Anterior Caudate	brain
13	chr14:79426200-79426600	Active TSS	Brain Hippocampus Middle	brain
14	chr14:79426200-79426600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:79426200-79426600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:79426200-79426600	Active TSS	NHLF	lung
17	chr14:79426200-79426800	Active TSS	Ovary	ovary
18	chr14:79426200-79426800	Active TSS	Right Atrium	heart
19	chr14:79426200-79426800	Active TSS	Stomach Smooth Muscle	stomach
20	chr14:79426200-79426800	Active TSS	NHDF-Ad	bronchial

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