Variant report

Variant	rs430599
Chromosome Location	chr4:48312171-48312172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48299110..48301166-chr4:48311658..48313371,2	K562	blood:
2	chr4:48306919..48308985-chr4:48310815..48312658,2	MCF-7	breast:
3	chr4:48307128..48308921-chr4:48310432..48312338,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10433724	0.82[EUR][1000 genomes]
rs11724334	0.82[EUR][1000 genomes]
rs11732570	0.83[EUR][1000 genomes]
rs11932069	0.83[EUR][1000 genomes]
rs11934137	0.83[EUR][1000 genomes]
rs12233640	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12499189	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13143606	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1509655	0.81[EUR][1000 genomes]
rs170145	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828297	0.81[EUR][1000 genomes]
rs1848742	0.80[EUR][1000 genomes]
rs1912162	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2136503	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2353304	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309883	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309891	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309892	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368292	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373720	0.84[AMR][1000 genomes]
rs379323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529022	0.83[EUR][1000 genomes]
rs4694892	0.80[EUR][1000 genomes]
rs55656036	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56041079	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56063319	0.83[EUR][1000 genomes]
rs58166553	0.83[EUR][1000 genomes]
rs58372912	0.83[EUR][1000 genomes]
rs59349478	0.83[EUR][1000 genomes]
rs59741528	0.82[EUR][1000 genomes]
rs59896383	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309361	0.83[EUR][1000 genomes]
rs62309362	0.83[EUR][1000 genomes]
rs62311478	0.83[EUR][1000 genomes]
rs62311498	0.83[EUR][1000 genomes]
rs6447626	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6840958	0.81[EUR][1000 genomes]
rs6852406	0.83[EUR][1000 genomes]
rs6858850	0.80[EUR][1000 genomes]
rs7657451	0.81[EUR][1000 genomes]
rs7665958	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666809	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688059	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7693991	0.84[AMR][1000 genomes];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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48309000-48313800	Weak transcription	K562	blood
2	chr4:48311600-48312600	Weak transcription	Fetal Brain Male	brain

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