Variant report

Variant	rs58437494
Chromosome Location	chr1:47414327-47414328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs45527338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45568538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4660984	1.00[AMR][1000 genomes]
rs56716388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274256	1.00[AMR][1000 genomes]
rs58501789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58867903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60785285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284575	1.00[AMR][1000 genomes]
rs6692757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886530	1.00[AMR][1000 genomes]
rs72888469	1.00[AMR][1000 genomes]
rs72890336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890348	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890351	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890355	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541790	1.00[AMR][1000 genomes]
rs9332997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333002	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333008	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv945928	chr1:47392738-47414613	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv546166	chr1:47407739-47495605	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3353025	chr1:47412603-47418891	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47411800-47417600	Enhancers	Liver	Liver
2	chr1:47412400-47415200	Enhancers	Stomach Mucosa	stomach
3	chr1:47413200-47414400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:47413200-47414400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:47413800-47424400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:47414000-47415000	Enhancers	HepG2	liver
7	chr1:47414200-47416600	Enhancers	Duodenum Mucosa	Duodenum

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