Variant report

Variant	rs6711257
Chromosome Location	chr2:72519723-72519724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72518926..72520501-chr2:72530271..72532810,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1000523	0.84[EUR][1000 genomes]
rs10175915	0.84[EUR][1000 genomes]
rs10178138	0.83[EUR][1000 genomes]
rs10178847	0.84[EUR][1000 genomes]
rs10181651	1.00[ASN][1000 genomes]
rs10181899	0.83[EUR][1000 genomes]
rs10183056	1.00[ASN][1000 genomes]
rs10186080	1.00[ASN][1000 genomes]
rs10190674	1.00[ASN][1000 genomes]
rs10193543	0.83[EUR][1000 genomes]
rs10203965	1.00[ASN][1000 genomes]
rs10204415	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10206555	1.00[ASN][1000 genomes]
rs10221767	0.83[EUR][1000 genomes]
rs10460572	1.00[ASN][1000 genomes]
rs10865391	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]
rs1123199	0.81[EUR][1000 genomes]
rs12463825	0.87[EUR][1000 genomes]
rs12471875	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]
rs13016873	1.00[ASN][1000 genomes]
rs13382986	0.83[EUR][1000 genomes]
rs13383535	1.00[ASN][1000 genomes]
rs13387630	0.84[EUR][1000 genomes]
rs13389524	0.83[EUR][1000 genomes]
rs13392314	0.84[EUR][1000 genomes]
rs13409513	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13409641	0.87[EUR][1000 genomes]
rs13424607	1.00[ASN][1000 genomes]
rs13430254	0.81[EUR][1000 genomes]
rs13430651	0.81[EUR][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1400582	1.00[ASN][1000 genomes]
rs1568145	1.00[ASN][1000 genomes]
rs1711838	1.00[ASN][1000 genomes]
rs17673916	0.84[EUR][1000 genomes]
rs17724860	0.84[EUR][1000 genomes]
rs17725024	0.82[EUR][1000 genomes]
rs2080044	0.83[EUR][1000 genomes]
rs2138683	1.00[ASN][1000 genomes]
rs2159823	0.83[EUR][1000 genomes]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852859	0.81[EUR][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	1.00[ASN][1000 genomes]
rs55764675	0.83[EUR][1000 genomes]
rs55970539	0.83[EUR][1000 genomes]
rs56299443	0.83[EUR][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	1.00[ASN][1000 genomes]
rs59095814	1.00[ASN][1000 genomes]
rs597799	1.00[ASN][1000 genomes]
rs598547	1.00[ASN][1000 genomes]
rs602465	1.00[ASN][1000 genomes]
rs603324	1.00[ASN][1000 genomes]
rs613880	1.00[ASN][1000 genomes]
rs614653	1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs62147589	0.81[EUR][1000 genomes]
rs62147626	0.83[EUR][1000 genomes]
rs62147629	0.84[EUR][1000 genomes]
rs62147636	0.84[EUR][1000 genomes]
rs62149273	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149275	1.00[ASN][1000 genomes]
rs62149282	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs625434	1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634574	1.00[ASN][1000 genomes]
rs634785	1.00[ASN][1000 genomes]
rs634929	1.00[ASN][1000 genomes]
rs636319	1.00[ASN][1000 genomes]
rs636332	1.00[ASN][1000 genomes]
rs636734	1.00[ASN][1000 genomes]
rs641123	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	1.00[ASN][1000 genomes]
rs654157	1.00[ASN][1000 genomes]
rs6546757	1.00[ASN][1000 genomes]
rs6546758	1.00[ASN][1000 genomes]
rs6546765	1.00[ASN][1000 genomes]
rs656370	1.00[ASN][1000 genomes]
rs656440	1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs661395	1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	1.00[ASN][1000 genomes]
rs669074	1.00[ASN][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs671550	1.00[ASN][1000 genomes]
rs671721	1.00[ASN][1000 genomes]
rs6719255	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6736305	1.00[ASN][1000 genomes]
rs6741956	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	1.00[ASN][1000 genomes]
rs683328	1.00[ASN][1000 genomes]
rs684673	1.00[ASN][1000 genomes]
rs687325	1.00[ASN][1000 genomes]
rs687371	1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs719117	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7584538	1.00[ASN][1000 genomes]
rs7603966	1.00[ASN][1000 genomes]
rs983928	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	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
rs6711257	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72517000-72520600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:72517400-72521000	Weak transcription	NHDF-Ad	bronchial
3	chr2:72517800-72520600	Enhancers	A549	lung
4	chr2:72518600-72520600	Weak transcription	Osteobl	bone
5	chr2:72518800-72520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:72519200-72520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:72519200-72520600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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