Variant report

Variant	rs2576124
Chromosome Location	chr13:54715827-54715828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12427903	0.97[EUR][1000 genomes]
rs12429828	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430260	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1335981	1.00[ASN][1000 genomes]
rs1414543	1.00[ASN][1000 genomes]
rs1577577	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604306	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17667588	0.87[EUR][1000 genomes]
rs17667614	0.87[EUR][1000 genomes]
rs1855847	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889824	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960782	1.00[EUR][1000 genomes]
rs1984140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050378	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065822	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2152084	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576122	1.00[EUR][1000 genomes]
rs2576125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576128	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576129	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576131	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2576135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576136	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2576147	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2784555	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784556	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784559	0.96[EUR][1000 genomes]
rs2784560	1.00[EUR][1000 genomes]
rs2784561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784562	1.00[EUR][1000 genomes]
rs2784564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784566	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2784567	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784568	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784569	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784572	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884928	0.84[EUR][1000 genomes]
rs57804893	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs878942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933101	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs988527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988528	0.99[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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1049	chr13:54684354-54728981	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54708600-54718800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:54714800-54721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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