Variant report

Variant	rs2730954
Chromosome Location	chr12:39033910-39033911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10047535	0.85[EUR][1000 genomes]
rs10783220	0.82[EUR][1000 genomes]
rs1095576	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168117	0.85[EUR][1000 genomes]
rs11168929	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169037	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169056	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169105	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169268	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169324	0.84[AMR][1000 genomes]
rs11559976	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231800	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1486342	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1486343	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1486355	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1523119	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1523120	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1615648	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1621487	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1684397	0.84[EUR][1000 genomes]
rs1684405	0.86[AMR][1000 genomes]
rs1719833	0.90[AMR][1000 genomes]
rs1719847	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2069210	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2134398	0.85[EUR][1000 genomes]
rs2455609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455610	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2630776	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2630778	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2630780	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2630782	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653722	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2653738	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2653752	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2653754	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653761	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653769	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2653775	0.85[EUR][1000 genomes]
rs2730897	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2730901	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730907	0.84[EUR][1000 genomes]
rs2730908	0.84[EUR][1000 genomes]
rs2730909	0.80[EUR][1000 genomes]
rs2730944	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2730946	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730948	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730949	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730955	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730957	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2730964	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3924548	0.82[EUR][1000 genomes]
rs4354729	0.85[EUR][1000 genomes]
rs4631924	0.82[EUR][1000 genomes]
rs60368384	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68075931	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304213	0.82[EUR][1000 genomes]
rs7313048	0.80[EUR][1000 genomes]
rs73269131	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964753	0.85[EUR][1000 genomes]
rs8181763	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8181765	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826839	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826840	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826841	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826845	0.90[AMR][1000 genomes]
rs826846	0.81[AMR][1000 genomes]
rs826847	0.90[AMR][1000 genomes]
rs826849	0.87[AMR][1000 genomes]
rs826853	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs826854	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs826857	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs826860	0.88[AMR][1000 genomes]
rs826861	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs826862	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs826866	0.84[AMR][1000 genomes]
rs826867	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs826868	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs826869	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs826871	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs826872	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs826880	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs826887	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs826890	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826894	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs826895	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs826896	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs851933	0.87[AMR][1000 genomes]
rs862331	0.90[AMR][1000 genomes]
rs862332	0.90[AMR][1000 genomes]
rs866120	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr12:39030800-39035000	Weak transcription	Esophagus	oesophagus
2	chr12:39033000-39034000	Enhancers	Placenta	Placenta

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