Variant report

Variant	rs17475053
Chromosome Location	chr5:114995827-114995828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11241334	0.86[EUR][1000 genomes]
rs11738328	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11746892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12654183	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12654216	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12657660	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12658303	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12659513	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13154109	0.87[EUR][1000 genomes]
rs13157751	0.85[EUR][1000 genomes]
rs13159585	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13159635	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13163943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13183998	0.85[ASN][1000 genomes]
rs13185184	0.85[EUR][1000 genomes]
rs13189628	0.85[EUR][1000 genomes]
rs1833625	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2112492	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34079481	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34388400	0.84[EUR][1000 genomes]
rs34466672	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35045451	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35535005	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35608354	0.84[EUR][1000 genomes]
rs36015870	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4432932	0.84[EUR][1000 genomes]
rs4434418	0.84[EUR][1000 genomes]
rs4449580	0.85[EUR][1000 genomes]
rs4634390	0.84[EUR][1000 genomes]
rs4920885	0.85[EUR][1000 genomes]
rs4920886	0.84[EUR][1000 genomes]
rs4921010	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4921011	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4921012	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55778236	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55945599	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55986002	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55990542	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57606772	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58308788	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58573881	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59710776	0.84[EUR][1000 genomes]
rs60377693	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66937271	0.85[EUR][1000 genomes]
rs67273503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67508709	0.85[EUR][1000 genomes]
rs67738624	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67965560	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72800433	0.87[EUR][1000 genomes]
rs73251979	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114993200-114996800	Weak transcription	Adipose Nuclei	Adipose
2	chr5:114994000-114996600	Weak transcription	Osteobl	bone
3	chr5:114994000-114996800	Weak transcription	NH-A	brain
4	chr5:114994000-115001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:114994200-114997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:114995800-114996200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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