Variant report

Variant	rs58446833
Chromosome Location	chr12:50116733-50116734
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	chr12:50101172..50103727-chr12:50114068..50116780,2	K562	blood:
2	chr12:50115775..50121630-chr12:50133704..50137408,7	K562	blood:

Variant related genes	Relation type
ENSG00000257570	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1049986	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10875964	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10875968	0.87[AMR][1000 genomes]
rs11169069	0.82[EUR][1000 genomes]
rs11169070	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11169073	0.83[EUR][1000 genomes]
rs11169076	0.84[EUR][1000 genomes]
rs11169081	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169082	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169092	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169097	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169101	0.83[AMR][1000 genomes]
rs11169104	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169106	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169109	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169111	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169112	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169113	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169118	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169125	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169127	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169133	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169140	0.87[AMR][1000 genomes]
rs11833411	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11834380	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12296586	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299505	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12299513	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12301824	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12303310	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12304796	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305460	0.86[AMR][1000 genomes]
rs12308256	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12309940	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12310510	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12311839	0.82[EUR][1000 genomes]
rs12314795	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12315224	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12315791	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12316284	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317646	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12320556	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12321169	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066	0.83[EUR][1000 genomes]
rs1470906	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1574326	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17123808	0.84[EUR][1000 genomes]
rs2005195	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2241418	0.81[EUR][1000 genomes]
rs2336058	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2878532	0.83[AMR][1000 genomes]
rs3815832	0.81[EUR][1000 genomes]
rs3887728	0.83[EUR][1000 genomes]
rs4045193	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4133070	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4563	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4584654	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57191490	0.81[AMR][1000 genomes]
rs57342147	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57463238	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59233136	0.87[AMR][1000 genomes]
rs59849800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59940006	0.84[EUR][1000 genomes]
rs60121503	0.86[AMR][1000 genomes]
rs60402517	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61616163	0.83[AMR][1000 genomes]
rs61620972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61710637	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6580719	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7131915	0.83[EUR][1000 genomes]
rs7136052	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137976	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7296281	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7299002	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7309607	0.87[AMR][1000 genomes]
rs7312658	0.87[AMR][1000 genomes]
rs7313738	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73305008	0.83[EUR][1000 genomes]
rs73305012	0.82[EUR][1000 genomes]
rs73305085	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73305098	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73306808	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73309030	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089182	0.81[AMR][1000 genomes]
rs7688	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952734	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7954994	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7955586	0.85[AMR][1000 genomes]
rs7956089	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956181	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7962645	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962863	0.80[AMR][1000 genomes]
rs7967624	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973389	0.83[EUR][1000 genomes]
rs7975599	0.81[EUR][1000 genomes]
rs7977389	0.82[EUR][1000 genomes]
rs7979262	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7980979	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs876889	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs897056	0.87[AMR][1000 genomes]
rs9804749	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9804971	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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