Variant report

Variant	rs56041079
Chromosome Location	chr4:48304125-48304126
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	chr4:48294874..48299158-chr4:48300568..48304359,7	K562	blood:
2	chr4:48295757..48299947-chr4:48300820..48304359,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10433724	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11724334	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11732570	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11932069	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11934137	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12233640	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12499189	0.83[EUR][1000 genomes]
rs13143606	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1509655	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs170145	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1828297	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1848742	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1912162	0.82[EUR][1000 genomes]
rs2136503	0.82[EUR][1000 genomes]
rs2353304	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309883	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs309890	0.80[AFR][1000 genomes]
rs309891	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309892	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368292	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs379323	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs430599	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4529022	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4694892	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55656036	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063319	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58166553	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58372912	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59349478	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59741528	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59896383	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309361	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62309362	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62311478	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62311498	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6447626	0.83[EUR][1000 genomes]
rs6447627	0.83[AMR][1000 genomes]
rs6836661	0.91[AMR][1000 genomes]
rs6840958	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6852406	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6858850	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7657451	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7659044	0.95[AMR][1000 genomes]
rs7665958	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666809	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688059	0.82[EUR][1000 genomes]
rs7693991	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain

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