Variant report

Variant	rs2420565
Chromosome Location	chr2:72867912-72867913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10183056	1.00[ASN][1000 genomes]
rs10206555	1.00[ASN][1000 genomes]
rs10211019	1.00[ASN][1000 genomes]
rs10460572	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865391	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	1.00[ASN][1000 genomes]
rs11126371	1.00[ASN][1000 genomes]
rs11126372	1.00[ASN][1000 genomes]
rs11126373	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126374	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126385	1.00[ASN][1000 genomes]
rs11684985	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894160	1.00[ASN][1000 genomes]
rs12052508	0.86[EUR][1000 genomes]
rs12471136	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476130	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12618390	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713772	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713773	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989141	1.00[ASN][1000 genomes]
rs12996406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998681	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008258	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016873	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424607	1.00[ASN][1000 genomes]
rs1396106	0.85[EUR][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1400582	1.00[ASN][1000 genomes]
rs1446888	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446889	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446890	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446891	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446892	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446893	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446895	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711838	1.00[ASN][1000 genomes]
rs1992799	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048171	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs4144318	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407272	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852292	0.86[EUR][1000 genomes]
rs4852293	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852872	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852876	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852878	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852880	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852893	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]
rs597799	1.00[ASN][1000 genomes]
rs614653	1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634929	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]
rs654157	1.00[ASN][1000 genomes]
rs6546776	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546778	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546779	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656370	1.00[ASN][1000 genomes]
rs656440	1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs671721	1.00[ASN][1000 genomes]
rs6736305	1.00[ASN][1000 genomes]
rs6739002	1.00[ASN][1000 genomes]
rs6741956	1.00[ASN][1000 genomes]
rs6742088	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742312	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747378	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674863	1.00[ASN][1000 genomes]
rs6750766	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761075	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs678684	1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs681574	1.00[ASN][1000 genomes]
rs681908	1.00[ASN][1000 genomes]
rs683328	1.00[ASN][1000 genomes]
rs684673	1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs7420391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560529	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560599	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571064	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580268	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588602	1.00[ASN][1000 genomes]
rs7591025	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591303	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592155	1.00[ASN][1000 genomes]
rs7598238	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601020	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601318	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603797	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs2420565	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72840200-72878600	Weak transcription	Aorta	Aorta
2	chr2:72847400-72869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:72854200-72868400	Weak transcription	Fetal Stomach	stomach
4	chr2:72858400-72904000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:72866200-72868200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:72866200-72877400	Weak transcription	Fetal Heart	heart
7	chr2:72866600-72868200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:72866600-72868200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:72866600-72868200	Weak transcription	Right Ventricle	heart
10	chr2:72866800-72902600	Weak transcription	Left Ventricle	heart

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