Variant report

Variant	rs11747396
Chromosome Location	chr5:111928453-111928454
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	chr5:111871115..111873160-chr5:111927827..111929771,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10052730	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052739	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066425	0.92[ASN][1000 genomes]
rs10067709	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750687	1.00[EUR][1000 genomes]
rs12110086	1.00[ASN][1000 genomes]
rs12516949	0.89[ASN][1000 genomes]
rs12518872	0.92[ASN][1000 genomes]
rs13185746	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073304	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073305	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073306	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4246013	0.92[ASN][1000 genomes]
rs4362986	0.92[ASN][1000 genomes]
rs4415120	0.92[ASN][1000 genomes]
rs4469237	0.92[ASN][1000 genomes]
rs4957652	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957653	0.93[ASN][1000 genomes]
rs4957654	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957655	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957657	0.99[ASN][1000 genomes]
rs4958063	0.92[ASN][1000 genomes]
rs4958065	0.92[ASN][1000 genomes]
rs4958067	0.94[ASN][1000 genomes]
rs4958069	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62365791	0.99[ASN][1000 genomes]
rs6421845	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6594619	0.95[ASN][1000 genomes]
rs6594625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594627	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594628	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594629	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594630	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594631	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594632	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594635	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594636	1.00[EUR][1000 genomes]
rs6594638	1.00[EUR][1000 genomes]
rs6594639	0.86[EUR][1000 genomes]
rs6594640	0.96[ASN][1000 genomes]
rs6863537	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864143	0.89[ASN][1000 genomes]
rs6869830	0.99[EUR][1000 genomes]
rs6887003	0.86[EUR][1000 genomes]
rs6891162	1.00[EUR][1000 genomes]
rs6891533	1.00[EUR][1000 genomes]
rs7378752	0.88[ASN][1000 genomes]
rs7448340	1.00[ASN][1000 genomes]
rs7448452	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448478	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7448522	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703825	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7710128	0.89[ASN][1000 genomes]
rs7713574	0.92[ASN][1000 genomes]
rs7713733	0.92[ASN][1000 genomes]
rs7717646	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717938	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7733473	0.99[ASN][1000 genomes]
rs7737751	0.82[AMR][1000 genomes];0.80[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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111927800-111929600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111928400-111928800	Enhancers	Brain Germinal Matrix	brain
3	chr5:111928400-111928800	Enhancers	Brain Substantia Nigra	brain

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