Variant report

Variant	rs12609258
Chromosome Location	chr19:38849315-38849316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1077994	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11556992	0.81[ASN][1000 genomes]
rs11880532	0.80[EUR][1000 genomes]
rs12608599	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12608644	0.88[ASN][1000 genomes]
rs12608722	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12610650	0.89[AMR][1000 genomes]
rs2074982	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2286474	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2302186	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2302227	0.90[ASN][1000 genomes]
rs3745954	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3745957	0.88[ASN][1000 genomes]
rs3745958	0.83[AMR][1000 genomes]
rs3745959	0.83[AMR][1000 genomes]
rs3948666	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4432370	0.96[ASN][1000 genomes]
rs45485196	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55959303	0.87[ASN][1000 genomes]
rs56854837	0.91[ASN][1000 genomes]
rs57146784	0.84[AMR][1000 genomes]
rs58462889	0.89[AMR][1000 genomes]
rs6508790	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72480720	0.87[AMR][1000 genomes];0.94[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
2	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
3	chr19:38843000-38850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:38849200-38849400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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