Variant report

Variant	rs57462004
Chromosome Location	chr12:44531508-44531509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10161163	1.00[ASN][1000 genomes]
rs10161301	1.00[ASN][1000 genomes]
rs10506233	1.00[ASN][1000 genomes]
rs11182363	1.00[ASN][1000 genomes]
rs11182371	1.00[ASN][1000 genomes]
rs11182376	1.00[ASN][1000 genomes]
rs11182389	1.00[ASN][1000 genomes]
rs11182401	1.00[ASN][1000 genomes]
rs12099550	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296939	1.00[ASN][1000 genomes]
rs12297529	1.00[ASN][1000 genomes]
rs12297544	0.87[ASN][1000 genomes]
rs12301421	1.00[ASN][1000 genomes]
rs12302401	1.00[ASN][1000 genomes]
rs12302578	1.00[ASN][1000 genomes]
rs12303163	1.00[ASN][1000 genomes]
rs12303870	1.00[ASN][1000 genomes]
rs12304783	1.00[ASN][1000 genomes]
rs12308508	0.87[ASN][1000 genomes]
rs12308564	1.00[ASN][1000 genomes]
rs12308750	1.00[ASN][1000 genomes]
rs12309408	1.00[ASN][1000 genomes]
rs12310801	1.00[ASN][1000 genomes]
rs12311153	1.00[ASN][1000 genomes]
rs12319385	1.00[ASN][1000 genomes]
rs12319439	1.00[ASN][1000 genomes]
rs12319776	1.00[ASN][1000 genomes]
rs12320155	1.00[ASN][1000 genomes]
rs12321149	1.00[ASN][1000 genomes]
rs12321287	1.00[ASN][1000 genomes]
rs1388775	1.00[ASN][1000 genomes]
rs17094016	1.00[ASN][1000 genomes]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[ASN][1000 genomes]
rs57655063	0.83[AFR][1000 genomes]
rs58851540	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs60379168	0.83[AFR][1000 genomes]
rs66993609	1.00[ASN][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73272262	0.81[AFR][1000 genomes]
rs73272268	0.83[AFR][1000 genomes]
rs73272290	0.83[AFR][1000 genomes]
rs73272298	0.83[AFR][1000 genomes]
rs73274103	0.83[AFR][1000 genomes]
rs73286295	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73286296	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73286301	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73288025	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288036	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288072	0.89[AFR][1000 genomes]
rs73288073	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288075	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288080	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288085	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288089	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288095	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288099	0.89[AFR][1000 genomes]
rs73290203	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290206	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290213	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290215	0.83[AFR][1000 genomes]
rs73290217	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290223	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290224	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290225	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290228	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290230	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290233	0.83[AFR][1000 genomes]
rs73290247	0.83[AFR][1000 genomes]
rs73290252	0.83[AFR][1000 genomes]
rs73290263	0.83[AFR][1000 genomes]
rs73290283	0.83[AFR][1000 genomes]
rs73290288	0.83[AFR][1000 genomes]
rs963095	0.87[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	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
2	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
3	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44522000-44534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44522400-44545200	Weak transcription	HSMMtube	muscle
4	chr12:44530000-44534400	Weak transcription	Aorta	Aorta
5	chr12:44530800-44573200	Weak transcription	Pancreas	Pancrea
6	chr12:44531000-44532200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:44531400-44531600	ZNF genes & repeats	Psoas Muscle	Psoas

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