Variant report

Variant	rs73288052
Chromosome Location	chr12:44512995-44512996
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10506234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10506238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613902	0.96[ASN][1000 genomes]
rs11832859	1.00[EUR][1000 genomes]
rs11834667	0.86[ASN][1000 genomes]
rs11837611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099550	0.86[EUR][1000 genomes]
rs12315961	0.96[ASN][1000 genomes]
rs1352935	0.90[ASN][1000 genomes]
rs17094063	0.90[ASN][1000 genomes]
rs17094097	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094117	0.96[ASN][1000 genomes]
rs17094119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094227	0.86[EUR][1000 genomes]
rs28495612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838075	0.96[ASN][1000 genomes]
rs55950371	0.87[ASN][1000 genomes]
rs58851540	0.86[EUR][1000 genomes]
rs59628873	0.96[ASN][1000 genomes]
rs60026566	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61399923	1.00[ASN][1000 genomes]
rs6582498	0.96[ASN][1000 genomes]
rs68049983	0.96[ASN][1000 genomes]
rs7298069	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272204	0.88[AFR][1000 genomes]
rs73272217	0.87[AFR][1000 genomes]
rs73286295	0.86[EUR][1000 genomes]
rs73286296	0.86[EUR][1000 genomes]
rs73286301	0.86[EUR][1000 genomes]
rs73288025	0.86[EUR][1000 genomes]
rs73288036	0.86[EUR][1000 genomes]
rs73288050	0.96[ASN][1000 genomes]
rs73288054	0.86[EUR][1000 genomes]
rs73288073	0.86[EUR][1000 genomes]
rs73288075	0.86[EUR][1000 genomes]
rs73288080	0.86[EUR][1000 genomes]
rs73288085	0.86[EUR][1000 genomes]
rs73288089	0.86[EUR][1000 genomes]
rs73288095	0.86[EUR][1000 genomes]
rs73290203	0.86[EUR][1000 genomes]
rs73290206	0.86[EUR][1000 genomes]
rs73290208	0.86[EUR][1000 genomes]
rs73290213	0.86[EUR][1000 genomes]
rs73290217	0.86[EUR][1000 genomes]
rs73290223	0.86[EUR][1000 genomes]
rs73290224	0.86[EUR][1000 genomes]
rs73290228	0.86[EUR][1000 genomes]
rs73290230	0.86[EUR][1000 genomes]
rs7953173	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7961986	0.87[AFR][1000 genomes]
rs7967819	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7967957	0.90[ASN][1000 genomes]
rs7971340	0.87[ASN][1000 genomes]
rs7980383	0.96[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	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
2	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
3	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44510800-44531400	Weak transcription	Psoas Muscle	Psoas
2	chr12:44511400-44521400	Weak transcription	Aorta	Aorta
3	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44511600-44521600	Weak transcription	HSMMtube	muscle
5	chr12:44512400-44513000	Weak transcription	Fetal Brain Female	brain
6	chr12:44512600-44513800	Enhancers	Fetal Brain Male	brain

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