Variant report

Variant	rs403039
Chromosome Location	chr5:115044230-115044231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1067726	0.89[ASN][1000 genomes]
rs1067728	0.89[ASN][1000 genomes]
rs152416	0.91[ASN][1000 genomes]
rs153073	0.91[ASN][1000 genomes]
rs153074	0.91[ASN][1000 genomes]
rs1651414	0.91[ASN][1000 genomes]
rs1698097	0.89[ASN][1000 genomes]
rs171662	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs173733	0.83[ASN][1000 genomes]
rs2431441	1.00[ASN][1000 genomes]
rs2431443	1.00[ASN][1000 genomes]
rs2434725	0.85[ASN][1000 genomes]
rs2434727	1.00[ASN][1000 genomes]
rs2455447	1.00[ASN][1000 genomes]
rs2455450	1.00[ASN][1000 genomes]
rs249720	0.91[ASN][1000 genomes]
rs249721	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs251878	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251879	0.91[ASN][1000 genomes]
rs2545847	0.91[ASN][1000 genomes]
rs2561860	0.89[ASN][1000 genomes]
rs2652663	0.94[ASN][1000 genomes]
rs3105151	0.94[ASN][1000 genomes]
rs397908	0.87[ASN][1000 genomes]
rs422161	0.89[ASN][1000 genomes]
rs425666	0.89[ASN][1000 genomes]
rs432032	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs440138	0.89[ASN][1000 genomes]
rs440925	0.89[ASN][1000 genomes]
rs441398	0.89[ASN][1000 genomes]
rs447079	0.89[ASN][1000 genomes]
rs455226	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs459180	0.89[ASN][1000 genomes]
rs460451	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs461084	0.89[ASN][1000 genomes]
rs461105	0.84[ASN][1000 genomes]
rs461952	1.00[ASN][1000 genomes]
rs462799	0.89[ASN][1000 genomes]
rs465126	0.89[ASN][1000 genomes]
rs465457	1.00[ASN][1000 genomes]
rs465496	0.89[ASN][1000 genomes]
rs465997	0.96[ASN][1000 genomes]
rs712556	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733817	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs791565	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1024641	chr5:115030110-115123474	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1021139	chr5:115036724-115131280	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115044000-115045200	Enhancers	Liver	Liver

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