Variant report

Variant	rs12992431
Chromosome Location	chr2:37715113-37715114
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11124584	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11124585	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11681193	0.90[ASN][1000 genomes]
rs11890793	0.93[ASN][1000 genomes]
rs12992054	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12992110	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12992720	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993204	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12995330	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13002004	0.84[EUR][1000 genomes]
rs13002345	0.85[EUR][1000 genomes]
rs13009200	0.89[EUR][1000 genomes]
rs13016394	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13016831	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13387905	0.80[EUR][1000 genomes]
rs17020823	0.81[EUR][1000 genomes]
rs17020835	0.82[EUR][1000 genomes]
rs2080387	0.82[EUR][1000 genomes]
rs2192940	0.91[ASN][1000 genomes]
rs2192949	0.91[ASN][1000 genomes]
rs34130356	0.83[EUR][1000 genomes]
rs36046846	0.84[EUR][1000 genomes]
rs4384766	0.86[ASN][1000 genomes]
rs4503967	0.89[ASN][1000 genomes]
rs58367831	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58694726	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs60691585	0.84[EUR][1000 genomes]
rs62135566	0.81[EUR][1000 genomes]
rs62135567	0.81[EUR][1000 genomes]
rs62135568	0.81[EUR][1000 genomes]
rs72793797	0.90[ASN][1000 genomes]
rs7562026	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562161	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582414	0.89[ASN][1000 genomes]
rs7584987	0.90[ASN][1000 genomes]
rs7592144	0.82[EUR][1000 genomes]
rs7595792	0.81[EUR][1000 genomes]
rs888101	0.88[ASN][1000 genomes]
rs9678172	0.81[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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37709600-37738000	Weak transcription	Liver	Liver
2	chr2:37713400-37715400	Weak transcription	Fetal Heart	heart

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