Variant report

Variant	rs2653722
Chromosome Location	chr12:38996752-38996753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10047535	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10747520	0.83[ASN][1000 genomes]
rs10783208	0.83[ASN][1000 genomes]
rs10783220	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1095576	0.83[EUR][1000 genomes]
rs11168117	0.82[EUR][1000 genomes]
rs11168173	0.82[ASN][1000 genomes]
rs11168929	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169037	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169056	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169105	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169268	0.82[EUR][1000 genomes]
rs11559976	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231800	0.83[EUR][1000 genomes]
rs1486342	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486343	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486355	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1684397	0.81[EUR][1000 genomes]
rs2069210	0.82[EUR][1000 genomes]
rs2134398	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2455609	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2455610	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630776	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630778	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630780	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630782	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653738	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653752	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653754	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653760	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653761	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653769	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653775	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2730897	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730901	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2730907	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2730908	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2730909	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2730944	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730946	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730948	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730949	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730954	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2730955	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730957	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2730964	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924548	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4131569	0.83[ASN][1000 genomes]
rs4354729	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4631924	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60368384	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68075931	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7304213	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7307821	0.92[AFR][1000 genomes]
rs7313048	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73269131	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7961649	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964753	0.82[EUR][1000 genomes]
rs8181763	0.83[EUR][1000 genomes]
rs8181765	0.83[EUR][1000 genomes]
rs826839	0.86[EUR][1000 genomes]
rs826840	0.84[EUR][1000 genomes]
rs826841	0.86[EUR][1000 genomes]
rs826853	0.82[EUR][1000 genomes]
rs826854	0.80[EUR][1000 genomes]
rs826857	0.82[EUR][1000 genomes]
rs826869	0.82[EUR][1000 genomes]
rs826871	0.82[EUR][1000 genomes]
rs826872	0.82[EUR][1000 genomes]
rs826880	0.83[EUR][1000 genomes]
rs826887	0.83[EUR][1000 genomes]
rs826890	0.86[EUR][1000 genomes]
rs826894	0.84[EUR][1000 genomes]
rs826895	0.83[EUR][1000 genomes]
rs826896	0.83[EUR][1000 genomes]
rs866120	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1039179	chr12:38453609-39029275	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv541476	chr12:38453609-39029275	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	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
7	nsv470285	chr12:38950082-39007749	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38995600-38996800	Enhancers	Hela-S3	cervix

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