Variant report

Variant	rs62149282
Chromosome Location	chr2:72570709-72570710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10181651	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183056	1.00[ASN][1000 genomes]
rs10186080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190674	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203965	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206555	1.00[ASN][1000 genomes]
rs10460572	1.00[ASN][1000 genomes]
rs10865391	1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs11126370	1.00[ASN][1000 genomes]
rs11126371	1.00[ASN][1000 genomes]
rs11126372	1.00[ASN][1000 genomes]
rs11126373	1.00[ASN][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12471875	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12618390	1.00[ASN][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	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	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409513	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424607	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1400582	1.00[AMR][1000 genomes];0.90[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]
rs1568145	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711838	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	1.00[ASN][1000 genomes]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs34183790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	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]
rs581976	1.00[ASN][1000 genomes]
rs583673	1.00[ASN][1000 genomes]
rs585653	1.00[ASN][1000 genomes]
rs585938	1.00[ASN][1000 genomes]
rs587431	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59095814	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597799	1.00[ASN][1000 genomes]
rs598547	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602465	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603324	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613880	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614653	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs62149275	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs625434	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634574	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634929	1.00[ASN][1000 genomes]
rs636319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636332	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636734	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641123	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642847	1.00[ASN][1000 genomes]
rs645489	1.00[ASN][1000 genomes]
rs646357	1.00[ASN][1000 genomes]
rs647269	1.00[ASN][1000 genomes]
rs650352	1.00[ASN][1000 genomes]
rs653842	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654157	1.00[ASN][1000 genomes]
rs6546757	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546758	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546765	0.85[AMR][1000 genomes];0.97[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]
rs656370	1.00[ASN][1000 genomes]
rs656440	1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs661395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	1.00[ASN][1000 genomes]
rs669074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711257	1.00[ASN][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs671550	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671721	1.00[ASN][1000 genomes]
rs6736305	1.00[ASN][1000 genomes]
rs6741956	1.00[AFR][1000 genomes];0.80[AMR][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	1.00[ASN][1000 genomes]
rs6750766	1.00[ASN][1000 genomes]
rs678684	1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs681574	1.00[ASN][1000 genomes]
rs681908	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs683328	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs684673	1.00[ASN][1000 genomes]
rs687325	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687371	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7584538	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];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]
rs7603966	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62149282	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
2	chr2:72553600-72576000	Weak transcription	Fetal Heart	heart
3	chr2:72553800-72594600	Weak transcription	Aorta	Aorta
4	chr2:72559200-72607400	Weak transcription	Liver	Liver
5	chr2:72560600-72594800	Weak transcription	Pancreas	Pancrea
6	chr2:72561600-72571800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:72569000-72577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:72569000-72577800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:72569600-72577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:72569800-72570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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