Variant report

Variant	rs12295247
Chromosome Location	chr11:58059793-58059794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11229350	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11229358	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11229359	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11229371	0.80[EUR][1000 genomes]
rs11229385	0.83[EUR][1000 genomes]
rs11494130	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11494131	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12270110	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12288500	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12295189	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361789	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12362065	0.87[EUR][1000 genomes]
rs12363504	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12364387	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12365107	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2096558	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4127347	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4387363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4482047	0.83[AMR][1000 genomes]
rs4509786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55983896	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57106977	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57922517	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58085299	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7107808	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7111679	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7128629	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734777	0.80[EUR][1000 genomes]
rs73481989	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73484144	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1039453	chr11:57924680-58119650	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv541051	chr11:57924680-58119650	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58059400-58059800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:58059400-58059800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:58059600-58060400	Weak transcription	Spleen	Spleen

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