Variant report

Variant	rs62147629
Chromosome Location	chr2:72488912-72488913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1000523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1003672	0.92[ASN][1000 genomes]
rs10175915	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10178138	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181899	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193543	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196589	0.92[ASN][1000 genomes]
rs10204415	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10205108	0.92[ASN][1000 genomes]
rs10209861	0.85[ASN][1000 genomes]
rs10221767	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221769	0.92[ASN][1000 genomes]
rs10865390	0.92[ASN][1000 genomes]
rs11126362	0.85[ASN][1000 genomes]
rs11126363	0.92[ASN][1000 genomes]
rs1123199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159763	0.92[ASN][1000 genomes]
rs1159764	0.92[ASN][1000 genomes]
rs1159765	0.92[ASN][1000 genomes]
rs1159766	0.92[ASN][1000 genomes]
rs11681809	0.92[ASN][1000 genomes]
rs12463825	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12466026	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466112	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382986	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389524	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391463	0.85[ASN][1000 genomes]
rs13392314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395204	0.85[ASN][1000 genomes]
rs13404369	0.92[ASN][1000 genomes]
rs13409641	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13416674	0.92[ASN][1000 genomes]
rs13417114	0.92[ASN][1000 genomes]
rs13418637	0.92[ASN][1000 genomes]
rs13423761	0.85[ASN][1000 genomes]
rs13430254	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430651	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724205	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724860	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17725024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194237	0.92[ASN][1000 genomes]
rs194238	0.92[ASN][1000 genomes]
rs194241	0.92[ASN][1000 genomes]
rs194242	0.85[ASN][1000 genomes]
rs194243	0.85[ASN][1000 genomes]
rs2041563	0.85[ASN][1000 genomes]
rs2041564	0.85[ASN][1000 genomes]
rs2080044	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109963	0.85[ASN][1000 genomes]
rs2159823	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28278	0.85[ASN][1000 genomes]
rs41387	0.92[ASN][1000 genomes]
rs41388	0.85[ASN][1000 genomes]
rs41389	0.85[ASN][1000 genomes]
rs41390	0.85[ASN][1000 genomes]
rs41391	0.85[ASN][1000 genomes]
rs41393	0.85[ASN][1000 genomes]
rs41394	0.85[ASN][1000 genomes]
rs41396	0.85[ASN][1000 genomes]
rs41398	0.85[ASN][1000 genomes]
rs41399	0.92[ASN][1000 genomes]
rs41400	0.85[ASN][1000 genomes]
rs41403	0.85[ASN][1000 genomes]
rs41405	0.85[ASN][1000 genomes]
rs41407	0.85[ASN][1000 genomes]
rs41408	0.92[ASN][1000 genomes]
rs41409	0.85[ASN][1000 genomes]
rs41415	0.85[ASN][1000 genomes]
rs41416	0.85[ASN][1000 genomes]
rs41417	0.85[ASN][1000 genomes]
rs41420	0.85[ASN][1000 genomes]
rs4852285	0.85[ASN][1000 genomes]
rs4852859	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852860	0.92[ASN][1000 genomes]
rs4852861	0.85[ASN][1000 genomes]
rs4852862	0.92[ASN][1000 genomes]
rs55764675	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877105	0.85[ASN][1000 genomes]
rs55970539	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56045434	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56143801	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56299443	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147573	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147579	0.85[ASN][1000 genomes]
rs62147589	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147626	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149273	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546752	0.92[ASN][1000 genomes]
rs6546753	0.85[ASN][1000 genomes]
rs6546755	0.85[ASN][1000 genomes]
rs6711257	0.84[EUR][1000 genomes]
rs6719255	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748607	0.85[ASN][1000 genomes]
rs6751276	0.85[ASN][1000 genomes]
rs6760895	0.85[ASN][1000 genomes]
rs719117	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565922	0.85[ASN][1000 genomes]
rs768042	0.85[ASN][1000 genomes]
rs768043	0.85[ASN][1000 genomes]
rs9309463	0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62147629	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72465800-72490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72483200-72489000	Weak transcription	Aorta	Aorta
3	chr2:72485200-72501800	Weak transcription	HSMMtube	muscle
4	chr2:72485400-72490000	Weak transcription	Fetal Heart	heart
5	chr2:72488200-72496600	Weak transcription	Psoas Muscle	Psoas

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