Variant report

Variant	rs1811493
Chromosome Location	chr12:42028048-42028049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1020536	0.81[ASN][1000 genomes]
rs1020537	0.81[ASN][1000 genomes]
rs10506202	0.84[ASN][1000 genomes]
rs11181060	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181069	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181070	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12321449	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466162	0.81[ASN][1000 genomes]
rs1495774	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1603305	0.82[ASN][1000 genomes]
rs17129602	0.96[ASN][1000 genomes]
rs17129608	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17129617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129618	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1975646	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1975647	0.87[EUR][1000 genomes]
rs1975648	0.88[EUR][1000 genomes]
rs2084721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167350	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2167351	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35652246	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847986	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3948059	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4143442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66645579	0.81[ASN][1000 genomes]
rs67237911	0.96[ASN][1000 genomes]
rs7133433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73120242	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7954132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960323	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960450	0.94[ASN][1000 genomes]
rs7974806	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899041	chr12:42005690-42072514	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	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	chr12:42024200-42029400	Weak transcription	Fetal Brain Male	brain
2	chr12:42028000-42028200	Enhancers	Fetal Intestine Large	intestine

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