Variant report

Variant	rs2005182
Chromosome Location	chr13:52677487-52677488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52025014..52028193-chr13:52674077..52677651,3	K562	blood:
2	chr13:52026008..52028349-chr13:52675344..52677651,2	K562	blood:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1004576	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1055062	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1060631	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1134727	0.96[ASN][1000 genomes]
rs12146904	0.97[ASN][1000 genomes]
rs12431310	0.97[ASN][1000 genomes]
rs12560598	0.91[ASN][1000 genomes]
rs1571189	0.90[ASN][1000 genomes]
rs1886538	0.80[ASN][1000 genomes]
rs1886539	0.95[ASN][1000 genomes]
rs1886543	0.97[ASN][1000 genomes]
rs1886544	0.97[ASN][1000 genomes]
rs1886545	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1886546	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277448	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296347	0.95[ASN][1000 genomes]
rs2408546	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2408547	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408548	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408552	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2408554	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2897964	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897965	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3742289	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742291	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783242	0.96[ASN][1000 genomes]
rs3818422	0.96[ASN][1000 genomes]
rs4261421	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4264295	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4941727	0.92[ASN][1000 genomes]
rs4943060	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61958804	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61958805	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6561656	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6650384	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650385	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66849828	0.92[ASN][1000 genomes]
rs7318287	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7319784	0.89[ASN][1000 genomes]
rs7320252	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7320429	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs732071	0.80[ASN][1000 genomes]
rs7320831	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7321120	0.89[ASN][1000 genomes]
rs7321310	0.89[ASN][1000 genomes]
rs7321435	0.80[ASN][1000 genomes]
rs7321775	0.81[ASN][1000 genomes]
rs7324458	0.97[ASN][1000 genomes]
rs7332356	0.92[ASN][1000 genomes]
rs7338131	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7998770	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526823	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526825	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526826	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526834	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526835	0.93[ASN][1000 genomes]
rs9526836	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526841	0.95[ASN][1000 genomes]
rs9526843	0.95[ASN][1000 genomes]
rs9535816	0.80[ASN][1000 genomes]
rs9535824	0.80[ASN][1000 genomes]
rs9535845	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535853	0.92[ASN][1000 genomes]
rs9535861	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9535867	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535871	0.92[ASN][1000 genomes]
rs9535873	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535883	0.88[ASN][1000 genomes]
rs9535888	0.84[ASN][1000 genomes]
rs9535889	0.90[ASN][1000 genomes]
rs9568682	0.80[ASN][1000 genomes]
rs9568684	0.80[ASN][1000 genomes]
rs9568692	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52672200-52677600	Weak transcription	HepG2	liver

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