Variant report

Variant	rs73288040
Chromosome Location	chr12:44499853-44499854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1159252	1.00[ASN][1000 genomes]
rs11830719	0.95[ASN][1000 genomes]
rs11830768	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11832828	0.95[ASN][1000 genomes]
rs11833168	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11834090	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11838118	0.82[AFR][1000 genomes]
rs17094072	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17094136	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17094187	0.83[AMR][1000 genomes]
rs17094194	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17094277	0.83[AMR][1000 genomes]
rs17094314	0.83[AMR][1000 genomes]
rs17094348	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2062953	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55782485	0.95[ASN][1000 genomes]
rs55977905	0.95[ASN][1000 genomes]
rs56973281	0.81[AFR][1000 genomes]
rs59404283	0.83[AMR][1000 genomes]
rs60400993	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60985254	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7132031	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7137787	0.86[ASN][1000 genomes]
rs7306362	0.95[ASN][1000 genomes]
rs73272217	1.00[ASN][1000 genomes]
rs73272295	0.83[AFR][1000 genomes]
rs73274135	0.86[AFR][1000 genomes]
rs73288033	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288071	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288083	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290241	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290243	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290244	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290245	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290254	0.84[AFR][1000 genomes]
rs73290256	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73290257	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7954128	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7968777	0.95[ASN][1000 genomes]
rs7977654	0.83[AMR][1000 genomes]
rs9738149	0.95[ASN][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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
2	chr12:44489000-44500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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