Variant report

Variant	rs73275531
Chromosome Location	chr12:45397683-45397684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2658991	1.00[AMR][1000 genomes]
rs268033	1.00[AMR][1000 genomes]
rs268038	1.00[AMR][1000 genomes]
rs2703036	1.00[AMR][1000 genomes]
rs2703044	1.00[AMR][1000 genomes]
rs2710427	1.00[AMR][1000 genomes]
rs2710432	1.00[AMR][1000 genomes]
rs58109917	1.00[AMR][1000 genomes]
rs58840891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275512	1.00[AMR][1000 genomes]
rs73275524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275596	1.00[AMR][1000 genomes]
rs73277300	1.00[AMR][1000 genomes]
rs73279134	1.00[AMR][1000 genomes]
rs73279144	1.00[AMR][1000 genomes]
rs73279145	1.00[AMR][1000 genomes]
rs73279158	1.00[AMR][1000 genomes]
rs73279176	1.00[AMR][1000 genomes]
rs73281008	1.00[AMR][1000 genomes]
rs73281095	1.00[AMR][1000 genomes]
rs73281098	1.00[AMR][1000 genomes]
rs73283039	1.00[AMR][1000 genomes]
rs73287011	1.00[AMR][1000 genomes]
rs73288970	1.00[AMR][1000 genomes]
rs73288973	1.00[AMR][1000 genomes]
rs73288975	1.00[AMR][1000 genomes]
rs73288980	1.00[AMR][1000 genomes]
rs73288988	1.00[AMR][1000 genomes]
rs73288990	1.00[AMR][1000 genomes]
rs73288993	1.00[AMR][1000 genomes]
rs73290682	1.00[AMR][1000 genomes]
rs73290685	1.00[AMR][1000 genomes]
rs73290688	1.00[AMR][1000 genomes]
rs73290690	1.00[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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