Variant report

Variant	rs293019
Chromosome Location	chr5:58008366-58008367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1035393	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158196	0.89[YRI][hapmap]
rs1422226	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149351	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs149525	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158958	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs158980	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs158986	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs158987	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158988	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs158990	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs158991	0.82[AFR][1000 genomes]
rs158992	0.89[YRI][hapmap]
rs158993	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap]
rs158994	0.89[YRI][hapmap]
rs158995	0.82[AFR][1000 genomes]
rs158997	0.81[ASN][1000 genomes]
rs158998	0.89[YRI][hapmap]
rs158999	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159000	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159001	0.95[YRI][hapmap]
rs159002	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs159003	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs159004	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159006	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159007	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs159008	0.81[ASN][1000 genomes]
rs159009	0.89[YRI][hapmap]
rs16877131	0.81[YRI][hapmap]
rs172397	0.95[EUR][1000 genomes]
rs172398	0.95[EUR][1000 genomes]
rs176637	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176807	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182391	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1833613	0.81[AFR][1000 genomes]
rs186010	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1895232	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161246	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs2545789	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2591913	0.94[YRI][hapmap]
rs2591920	0.94[EUR][1000 genomes]
rs2591921	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs2591922	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591923	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs2591924	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2662624	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs290572	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292948	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs292949	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs292994	0.91[YRI][hapmap]
rs292995	0.90[YRI][hapmap]
rs293000	0.95[EUR][1000 genomes]
rs293002	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs293005	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293007	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293008	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs293009	0.88[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs293010	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs293013	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs293014	0.95[EUR][1000 genomes]
rs293016	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs293017	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs293018	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293021	0.85[AFR][1000 genomes]
rs293023	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs293024	0.82[AFR][1000 genomes]
rs293025	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293026	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293027	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293028	0.83[AFR][1000 genomes]
rs293029	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293031	0.89[YRI][hapmap]
rs49960	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs49961	0.98[EUR][1000 genomes];1.00[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:57997800-58012200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:58001800-58013000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:58007800-58008600	Enhancers	Liver	Liver

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