Variant report

Variant	rs58602576
Chromosome Location	chr12:44489048-44489049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43184139..43186103-chr12:44487352..44490285,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10506235	1.00[AFR][1000 genomes]
rs10506236	1.00[AFR][1000 genomes]
rs10506239	1.00[AFR][1000 genomes]
rs10506241	0.84[AFR][1000 genomes]
rs11609283	0.84[AFR][1000 genomes]
rs11609568	0.84[AFR][1000 genomes]
rs11610433	0.84[AFR][1000 genomes]
rs11612257	0.84[AFR][1000 genomes]
rs11613064	0.84[AFR][1000 genomes]
rs11613444	0.84[AFR][1000 genomes]
rs1527316	0.81[AFR][1000 genomes]
rs17094121	1.00[AFR][1000 genomes]
rs17094226	0.82[AFR][1000 genomes]
rs17094228	0.84[AFR][1000 genomes]
rs17094242	0.84[AFR][1000 genomes]
rs17094260	0.84[AFR][1000 genomes]
rs17094263	0.84[AFR][1000 genomes]
rs17094282	0.84[AFR][1000 genomes]
rs17094291	0.84[AFR][1000 genomes]
rs17094292	0.84[AFR][1000 genomes]
rs17094298	0.84[AFR][1000 genomes]
rs17094299	0.84[AFR][1000 genomes]
rs17094300	0.84[AFR][1000 genomes]
rs17094304	0.84[AFR][1000 genomes]
rs17094313	0.84[AFR][1000 genomes]
rs17094322	0.81[AFR][1000 genomes]
rs17094323	0.81[AFR][1000 genomes]
rs17094325	0.81[AFR][1000 genomes]
rs17094330	0.81[AFR][1000 genomes]
rs17094343	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17094356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28397962	0.84[AFR][1000 genomes]
rs55633842	0.81[AFR][1000 genomes]
rs55645887	0.81[AFR][1000 genomes]
rs55747421	0.81[AFR][1000 genomes]
rs55840982	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55874183	0.81[AFR][1000 genomes]
rs55991202	0.81[AFR][1000 genomes]
rs55999021	0.84[AFR][1000 genomes]
rs56192803	0.84[AFR][1000 genomes]
rs56218625	0.98[AFR][1000 genomes]
rs56877775	1.00[EUR][1000 genomes]
rs57094207	0.84[AFR][1000 genomes]
rs57851938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58450697	0.81[AFR][1000 genomes]
rs59136483	0.81[AFR][1000 genomes]
rs59618205	0.95[EUR][1000 genomes]
rs59704299	0.81[AFR][1000 genomes]
rs60461380	0.81[AFR][1000 genomes]
rs60939199	1.00[AFR][1000 genomes]
rs61228557	0.84[AFR][1000 genomes]
rs7305296	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7308476	0.84[AFR][1000 genomes]
rs73086766	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73093451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093458	1.00[AFR][1000 genomes]
rs73093470	1.00[EUR][1000 genomes]
rs73093490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093496	1.00[EUR][1000 genomes]
rs73096886	1.00[EUR][1000 genomes]
rs73099009	0.87[AFR][1000 genomes]
rs73099011	0.87[AFR][1000 genomes]
rs73099012	1.00[EUR][1000 genomes]
rs73099027	0.81[AFR][1000 genomes]
rs73100803	0.81[AFR][1000 genomes]
rs73100817	0.81[AFR][1000 genomes]
rs73100829	0.84[AFR][1000 genomes]
rs73100835	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73100838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73100848	0.84[AFR][1000 genomes]
rs73100851	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73102910	0.84[AFR][1000 genomes]
rs73102919	0.84[AFR][1000 genomes]
rs73102924	0.84[AFR][1000 genomes]
rs73102925	0.84[AFR][1000 genomes]
rs73102927	0.84[AFR][1000 genomes]
rs73102932	0.81[AFR][1000 genomes]
rs73102937	0.81[AFR][1000 genomes]
rs73102938	0.81[AFR][1000 genomes]
rs73102952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73102954	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102964	0.82[EUR][1000 genomes]
rs7310881	0.84[AFR][1000 genomes]
rs7311714	0.84[AFR][1000 genomes]
rs7311937	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7313649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7954216	0.81[AFR][1000 genomes]
rs7968824	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
3	chr12:44486400-44491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44489000-44500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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