Variant report

Variant	rs1992799
Chromosome Location	chr2:72822125-72822126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10183056	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10186080	1.00[ASN][1000 genomes]
rs10190674	1.00[ASN][1000 genomes]
rs10203965	1.00[ASN][1000 genomes]
rs10206555	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10211019	1.00[ASN][1000 genomes]
rs10460572	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865391	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126371	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126372	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126373	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126374	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126385	1.00[ASN][1000 genomes]
rs11684985	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894160	1.00[ASN][1000 genomes]
rs12052508	0.94[EUR][1000 genomes]
rs12471136	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476130	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12618390	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713772	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713773	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989141	1.00[ASN][1000 genomes]
rs12996406	1.00[ASN][1000 genomes]
rs12998681	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008258	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016873	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383535	1.00[ASN][1000 genomes]
rs13424607	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1400580	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446889	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446891	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446893	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446895	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568145	1.00[ASN][1000 genomes]
rs1711838	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	1.00[ASN][1000 genomes]
rs2048171	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420565	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106879	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3106880	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34127669	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34183790	0.80[AMR][1000 genomes]
rs4144318	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852292	0.89[EUR][1000 genomes]
rs4852293	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852872	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852876	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852878	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852880	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852893	1.00[ASN][1000 genomes]
rs581976	1.00[ASN][1000 genomes]
rs583673	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585653	1.00[ASN][1000 genomes]
rs585938	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587431	1.00[ASN][1000 genomes]
rs597799	1.00[ASN][1000 genomes]
rs598547	1.00[ASN][1000 genomes]
rs602465	1.00[ASN][1000 genomes]
rs603324	1.00[ASN][1000 genomes]
rs613880	1.00[ASN][1000 genomes]
rs614653	1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs625434	1.00[ASN][1000 genomes]
rs631550	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs632670	1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634574	1.00[ASN][1000 genomes]
rs634785	1.00[ASN][1000 genomes]
rs634929	1.00[ASN][1000 genomes]
rs636319	1.00[ASN][1000 genomes]
rs636332	1.00[ASN][1000 genomes]
rs636734	1.00[ASN][1000 genomes]
rs641123	1.00[ASN][1000 genomes]
rs642847	1.00[ASN][1000 genomes]
rs645489	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs646357	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs647269	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs650352	1.00[ASN][1000 genomes]
rs653842	1.00[ASN][1000 genomes]
rs654157	1.00[ASN][1000 genomes]
rs6546776	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546779	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656370	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs656440	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs661395	1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs669074	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6714580	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs671550	1.00[ASN][1000 genomes]
rs671721	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6736305	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6739002	1.00[ASN][1000 genomes]
rs6741956	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742312	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674863	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6750766	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761075	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs678684	1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs681574	1.00[ASN][1000 genomes]
rs681908	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs683328	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs684673	1.00[ASN][1000 genomes]
rs687325	1.00[ASN][1000 genomes]
rs687371	1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs7420391	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560529	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560599	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571064	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580268	1.00[ASN][1000 genomes]
rs7588602	1.00[ASN][1000 genomes]
rs7591025	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592155	1.00[ASN][1000 genomes]
rs7598238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603797	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1992799	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72809200-72833800	Weak transcription	Left Ventricle	heart
2	chr2:72820400-72823400	Weak transcription	Psoas Muscle	Psoas
3	chr2:72821400-72823200	Weak transcription	Ovary	ovary

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