Variant report

Variant	rs73275543
Chromosome Location	chr12:45399718-45399719
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11182756	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11182799	0.83[AMR][1000 genomes]
rs11182800	0.85[AMR][1000 genomes]
rs11182802	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11830299	0.82[AMR][1000 genomes]
rs11836961	0.93[ASN][1000 genomes]
rs11837935	0.85[ASN][1000 genomes]
rs12301265	1.00[ASN][1000 genomes]
rs12313452	0.97[ASN][1000 genomes]
rs1495041	0.97[ASN][1000 genomes]
rs17095327	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17095370	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095379	0.92[AMR][1000 genomes]
rs17095386	0.95[AMR][1000 genomes]
rs2160987	0.97[ASN][1000 genomes]
rs364282	0.90[AMR][1000 genomes]
rs57404677	0.93[ASN][1000 genomes]
rs57765913	0.85[AMR][1000 genomes]
rs59211662	0.97[ASN][1000 genomes]
rs59431125	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138268	0.92[AMR][1000 genomes]
rs7298235	1.00[ASN][1000 genomes]
rs7303544	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7310114	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7314773	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73275548	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080428	0.93[AMR][1000 genomes]
rs7976293	0.92[AMR][1000 genomes]
rs978696	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469367	chr12:45363545-45400614	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv558753	chr12:45363545-45400614	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45393000-45412600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:45394600-45406000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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