Variant report

Variant	rs12500948
Chromosome Location	chr4:127909227-127909228
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	chr4:127878020..127880323-chr4:127908771..127910687,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10012049	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024119	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11732135	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11735147	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498487	0.83[ASN][1000 genomes]
rs12500440	0.83[ASN][1000 genomes]
rs12506106	0.83[ASN][1000 genomes]
rs12506951	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12507172	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509399	0.83[ASN][1000 genomes]
rs12510258	0.83[ASN][1000 genomes]
rs12510561	0.83[ASN][1000 genomes]
rs12512293	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13107341	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13126154	0.83[ASN][1000 genomes]
rs1397432	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473018	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1480904	0.83[ASN][1000 genomes]
rs1510664	0.83[ASN][1000 genomes]
rs1510666	0.81[EUR][1000 genomes]
rs1510671	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1510677	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1510678	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1510694	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1600664	0.83[ASN][1000 genomes]
rs17209401	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17209459	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17210317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17210366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17210835	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17274168	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17274880	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17276043	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17276448	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17277345	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17277580	0.83[ASN][1000 genomes]
rs17277733	0.83[ASN][1000 genomes]
rs1848932	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1877070	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1912520	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2048378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391120	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2391121	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2391124	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28719170	0.83[ASN][1000 genomes]
rs35078448	0.83[ASN][1000 genomes]
rs4373175	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833361	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833363	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4834157	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4834169	0.83[ASN][1000 genomes]
rs5011815	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55665999	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55926587	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56049331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56080449	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56093833	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56095322	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56166314	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56305646	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57018884	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60300026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60444403	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62323516	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62324061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62324069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324070	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62324071	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62324072	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62324106	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62324478	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62333855	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62333857	0.83[ASN][1000 genomes]
rs6534591	0.90[ASN][1000 genomes]
rs6534593	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6813695	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6828035	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs764329	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs764330	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7654524	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7657229	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689620	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9307592	0.86[EUR][1000 genomes];0.94[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	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv879913	chr4:127844803-127948196	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 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	chr4:127908200-127913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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