Variant report

Variant	rs34183790
Chromosome Location	chr2:72620138-72620139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72615828..72618063-chr2:72620028..72621701,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10181651	0.87[EUR][1000 genomes]
rs10183056	0.84[EUR][1000 genomes]
rs10186080	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10190674	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10203965	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10206555	0.84[EUR][1000 genomes]
rs11126370	0.80[EUR][1000 genomes]
rs11126371	0.80[EUR][1000 genomes]
rs11126372	0.80[EUR][1000 genomes]
rs12471875	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12476397	0.80[EUR][1000 genomes]
rs13383535	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13409513	0.86[EUR][1000 genomes]
rs13424607	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1400580	0.80[EUR][1000 genomes]
rs1400582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1568145	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1711838	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1992799	0.80[AMR][1000 genomes]
rs2138683	0.80[EUR][1000 genomes]
rs3106880	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs581976	0.82[EUR][1000 genomes]
rs583673	0.82[EUR][1000 genomes]
rs585653	0.84[EUR][1000 genomes]
rs585938	0.82[EUR][1000 genomes]
rs587431	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59095814	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs597799	0.84[EUR][1000 genomes]
rs598547	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs602465	0.97[EUR][1000 genomes]
rs603324	0.97[EUR][1000 genomes]
rs613880	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs614653	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs619343	0.84[EUR][1000 genomes]
rs62149282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs623095	0.89[EUR][1000 genomes]
rs625434	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs631550	0.82[EUR][1000 genomes]
rs632670	0.84[EUR][1000 genomes]
rs634476	0.89[EUR][1000 genomes]
rs634574	0.96[EUR][1000 genomes]
rs634785	0.90[EUR][1000 genomes]
rs634929	0.83[EUR][1000 genomes]
rs636319	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs636332	1.00[EUR][1000 genomes]
rs636734	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs641123	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642847	0.82[EUR][1000 genomes]
rs645489	0.84[EUR][1000 genomes]
rs646357	0.84[EUR][1000 genomes]
rs647269	0.82[EUR][1000 genomes]
rs650352	0.84[EUR][1000 genomes]
rs653842	0.97[EUR][1000 genomes]
rs654157	0.84[EUR][1000 genomes]
rs6546757	0.87[EUR][1000 genomes]
rs6546758	0.84[EUR][1000 genomes]
rs6546765	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs656370	0.84[EUR][1000 genomes]
rs656440	0.84[EUR][1000 genomes]
rs658067	0.82[EUR][1000 genomes]
rs661395	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs664652	0.89[EUR][1000 genomes]
rs666361	0.84[EUR][1000 genomes]
rs669074	0.90[EUR][1000 genomes]
rs6714580	0.84[EUR][1000 genomes]
rs671550	0.94[EUR][1000 genomes]
rs671721	0.84[EUR][1000 genomes]
rs6736305	0.84[EUR][1000 genomes]
rs6741956	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs674863	0.82[EUR][1000 genomes]
rs678684	0.84[EUR][1000 genomes]
rs680380	0.89[EUR][1000 genomes]
rs681574	0.89[EUR][1000 genomes]
rs681908	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs683328	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs684673	0.81[EUR][1000 genomes]
rs687325	1.00[EUR][1000 genomes]
rs687371	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs688433	0.82[EUR][1000 genomes]
rs7584538	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7603966	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3429281	chr2:72590346-72623676	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
rs34183790	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72613600-72620200	Weak transcription	Fetal Brain Male	brain
2	chr2:72613800-72654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:72619400-72620200	ZNF genes & repeats	A549	lung
4	chr2:72619600-72625400	Weak transcription	Aorta	Aorta
5	chr2:72619600-72640600	Weak transcription	Ovary	ovary
6	chr2:72620000-72620600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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