Variant report

Variant	rs17115633
Chromosome Location	chr14:45308663-45308664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10483549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11847039	1.00[ASN][1000 genomes]
rs11847113	1.00[ASN][1000 genomes]
rs11851357	1.00[ASN][1000 genomes]
rs11851605	0.81[EUR][1000 genomes]
rs1593278	1.00[ASN][1000 genomes]
rs1593279	1.00[ASN][1000 genomes]
rs17092465	0.90[EUR][1000 genomes]
rs17092468	1.00[ASN][1000 genomes]
rs17115611	0.88[EUR][1000 genomes]
rs17115612	0.90[EUR][1000 genomes]
rs17115619	0.90[EUR][1000 genomes]
rs17115639	1.00[ASN][1000 genomes]
rs17115642	0.96[ASN][1000 genomes]
rs17115646	1.00[ASN][1000 genomes]
rs17115648	1.00[ASN][1000 genomes]
rs17115651	1.00[ASN][1000 genomes]
rs17115652	1.00[ASN][1000 genomes]
rs17115657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115667	0.84[ASN][1000 genomes]
rs2295158	0.95[EUR][1000 genomes]
rs2295160	0.95[EUR][1000 genomes]
rs28419436	0.84[ASN][1000 genomes]
rs28432035	0.96[ASN][1000 genomes]
rs3742591	0.86[EUR][1000 genomes]
rs4141578	0.86[EUR][1000 genomes]
rs58338525	1.00[ASN][1000 genomes]
rs58671853	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61326615	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61332203	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147644	0.86[EUR][1000 genomes]
rs7161626	0.95[ASN][1000 genomes]
rs722706	1.00[ASN][1000 genomes]
rs72474137	0.93[EUR][1000 genomes]
rs72621070	0.86[EUR][1000 genomes]
rs72671096	0.90[ASN][1000 genomes]
rs73345279	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73348060	0.81[EUR][1000 genomes]
rs73348075	0.81[EUR][1000 genomes]
rs73348285	0.86[EUR][1000 genomes]
rs73352246	0.81[EUR][1000 genomes]
rs7492763	0.84[ASN][1000 genomes]
rs8003020	1.00[ASN][1000 genomes]
rs8009677	1.00[ASN][1000 genomes]
rs8016855	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
12	nsv1039820	chr14:45298012-45361409	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1051860	chr14:45303778-45339780	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45303800-45309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:45305000-45314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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