Variant report

Variant	rs2408546
Chromosome Location	chr13:52618211-52618212
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	chr13:52605847..52608629-chr13:52617220..52620408,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004576	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1055062	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1060631	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1134727	0.93[ASN][1000 genomes]
rs12146904	0.94[ASN][1000 genomes]
rs12431310	0.94[ASN][1000 genomes]
rs12560598	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1571189	0.87[ASN][1000 genomes]
rs1886538	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1886539	0.92[ASN][1000 genomes]
rs1886543	0.94[ASN][1000 genomes]
rs1886544	0.94[ASN][1000 genomes]
rs1886545	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886546	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005182	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2147359	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2147360	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277448	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2296347	0.92[ASN][1000 genomes]
rs2408547	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408548	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408552	0.92[ASN][1000 genomes]
rs2408554	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2897964	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2897965	0.90[ASN][1000 genomes]
rs3742289	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742291	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783242	0.93[ASN][1000 genomes]
rs3818422	0.93[ASN][1000 genomes]
rs4261421	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264295	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4600369	0.81[ASN][1000 genomes]
rs4941720	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4941723	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4941727	0.88[ASN][1000 genomes]
rs4943060	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61958804	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61958805	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6561656	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6650384	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6650385	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66849828	0.88[ASN][1000 genomes]
rs7318287	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7319784	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7320252	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7320429	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs732071	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7320831	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7321120	0.91[ASN][1000 genomes]
rs7321310	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7321435	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7321775	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7324458	0.94[ASN][1000 genomes]
rs7332356	0.94[ASN][1000 genomes]
rs7338131	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7998770	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526817	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9526823	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526825	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526826	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526834	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526835	0.90[ASN][1000 genomes]
rs9526836	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526841	0.92[ASN][1000 genomes]
rs9526843	0.92[ASN][1000 genomes]
rs9535813	0.81[ASN][1000 genomes]
rs9535816	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535821	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535824	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535845	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535853	0.94[ASN][1000 genomes]
rs9535861	0.85[ASN][1000 genomes]
rs9535867	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535871	0.89[ASN][1000 genomes]
rs9535873	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535883	0.84[ASN][1000 genomes]
rs9535888	0.84[ASN][1000 genomes]
rs9535889	0.87[ASN][1000 genomes]
rs9568682	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568684	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568692	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52600400-52627600	Weak transcription	HSMMtube	muscle
2	chr13:52601000-52619400	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:52610400-52620800	Weak transcription	Left Ventricle	heart
4	chr13:52617800-52618600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:52618000-52618600	Enhancers	HepG2	liver
6	chr13:52618200-52619800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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