Variant report

Variant	rs12473298
Chromosome Location	chr2:31702502-31702503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1033688	0.96[ASN][1000 genomes]
rs1033689	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1033690	0.96[ASN][1000 genomes]
rs11124260	0.97[ASN][1000 genomes]
rs11124261	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11526116	0.94[ASN][1000 genomes]
rs11526117	0.94[ASN][1000 genomes]
rs11674100	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11679875	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12467131	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12468955	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12469125	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12479415	0.89[ASN][1000 genomes]
rs17545406	0.93[ASN][1000 genomes]
rs17545483	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604588	0.92[ASN][1000 genomes]
rs17604831	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1884723	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978638	0.90[ASN][1000 genomes]
rs1978639	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2163058	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2365772	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365778	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28810790	0.81[ASN][1000 genomes]
rs28815209	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28879135	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34096339	0.89[ASN][1000 genomes]
rs4622775	0.96[ASN][1000 genomes]
rs4952215	0.89[ASN][1000 genomes]
rs4952236	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952251	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952263	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55933129	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56247470	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56271553	0.90[ASN][1000 genomes]
rs58071748	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58364223	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58967340	0.97[ASN][1000 genomes]
rs59770035	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59964343	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60441502	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60989770	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61316601	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61706447	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62141223	0.90[ASN][1000 genomes]
rs66492775	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710918	0.84[ASN][1000 genomes]
rs67603251	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67830899	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72790682	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72794621	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7575607	0.93[ASN][1000 genomes]
rs7585845	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595578	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602067	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs766273	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9636426	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999815	chr2:31654667-31777296	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv525643	chr2:31695655-31708616	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31699600-31703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:31700800-31702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:31700800-31707600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:31701000-31712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:31701400-31706800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:31702400-31703600	Enhancers	NHDF-Ad	bronchial

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