Variant report

Variant	rs623095
Chromosome Location	chr2:72646373-72646374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10181651	1.00[ASN][1000 genomes]
rs10183056	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186080	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10190674	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10203965	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10206555	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460572	1.00[ASN][1000 genomes]
rs10865391	1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs11126370	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126371	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126372	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126373	1.00[ASN][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11684985	1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12471875	1.00[ASN][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12476397	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618390	1.00[ASN][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	1.00[ASN][1000 genomes]
rs12713774	1.00[ASN][1000 genomes]
rs12998681	1.00[ASN][1000 genomes]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13016873	1.00[ASN][1000 genomes]
rs13383535	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13409513	1.00[ASN][1000 genomes]
rs13424607	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400580	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[ASN][1000 genomes]
rs1446893	1.00[ASN][1000 genomes]
rs1446895	1.00[ASN][1000 genomes]
rs1568145	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1711838	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992799	1.00[ASN][1000 genomes]
rs2138683	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420565	1.00[ASN][1000 genomes]
rs3106879	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34127669	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34183790	0.89[EUR][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852293	1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852880	1.00[ASN][1000 genomes]
rs581976	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585653	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585938	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587431	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59095814	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs597799	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598547	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs602465	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603324	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613880	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614653	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619343	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149275	1.00[ASN][1000 genomes]
rs62149282	1.00[ASN][1000 genomes]
rs625434	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631550	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632670	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634574	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634785	1.00[ASN][1000 genomes]
rs634929	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636319	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs636332	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636734	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641123	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642847	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645489	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646357	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647269	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650352	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653842	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654157	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546757	1.00[ASN][1000 genomes]
rs6546758	1.00[ASN][1000 genomes]
rs6546765	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546776	1.00[ASN][1000 genomes]
rs6546777	1.00[ASN][1000 genomes]
rs6546778	1.00[ASN][1000 genomes]
rs6546779	1.00[ASN][1000 genomes]
rs656370	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656440	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658067	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661395	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs664652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666361	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669074	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6711257	1.00[ASN][1000 genomes]
rs6714580	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671550	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671721	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736305	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741956	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs674863	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750766	1.00[ASN][1000 genomes]
rs678684	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680380	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681574	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683328	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684673	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687325	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687371	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs688433	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420391	1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	1.00[ASN][1000 genomes]
rs7584538	1.00[ASN][1000 genomes]
rs7591025	1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7598238	1.00[ASN][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[ASN][1000 genomes]
rs7603797	1.00[ASN][1000 genomes]
rs7603966	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv2773	chr2:72603908-72649311	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs623095	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72613800-72654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72628400-72648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:72636200-72654000	Weak transcription	Aorta	Aorta
4	chr2:72638800-72655400	Weak transcription	Left Ventricle	heart
5	chr2:72641400-72649400	Weak transcription	Fetal Lung	lung
6	chr2:72641800-72654200	Weak transcription	Fetal Stomach	stomach
7	chr2:72643000-72647000	Weak transcription	Brain Anterior Caudate	brain

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