Variant report

Variant	rs17115618
Chromosome Location	chr14:45297334-45297335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10134284	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10141821	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10146481	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11844786	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11847113	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12146993	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147665	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323322	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1593278	0.91[EUR][1000 genomes]
rs170693	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17092465	0.92[ASN][1000 genomes]
rs17092468	0.91[EUR][1000 genomes]
rs17115611	0.91[ASN][1000 genomes]
rs17115612	0.95[ASN][1000 genomes]
rs17115619	0.98[ASN][1000 genomes]
rs17115642	0.89[EUR][1000 genomes]
rs17115651	0.93[EUR][1000 genomes]
rs17115667	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs172967	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1952393	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2081383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2113723	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs229754	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229755	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28419436	0.89[EUR][1000 genomes]
rs28507671	0.91[AMR][1000 genomes]
rs7161626	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs722706	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73343261	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7492763	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8003020	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8009677	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8011828	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs8016855	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	esv2758356	chr14:45057833-45313666	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759986	chr14:45057833-45313666	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1050829	chr14:45157388-45318232	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
10	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1047190	chr14:45291979-45317303	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17115618	RP11-398E10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45297000-45297600	Enhancers	Fetal Heart	heart
2	chr14:45297000-45297800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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