Variant report

Variant	rs12306208
Chromosome Location	chr12:45398922-45398923
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506260	0.80[EUR][1000 genomes]
rs10785536	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10785537	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10880724	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880726	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182756	0.80[ASN][1000 genomes]
rs11609889	0.80[EUR][1000 genomes]
rs12301265	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12579631	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12810186	0.80[EUR][1000 genomes]
rs12811419	0.80[EUR][1000 genomes]
rs12818196	0.80[EUR][1000 genomes]
rs12819320	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12822384	0.80[CEU][hapmap]
rs12830232	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12830481	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs12831193	0.80[EUR][1000 genomes]
rs13328953	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1395397	1.00[JPT][hapmap]
rs17095127	1.00[JPT][hapmap]
rs17095316	0.80[EUR][1000 genomes]
rs17095325	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17095327	1.00[ASN][1000 genomes]
rs17095370	0.91[ASN][1000 genomes]
rs17095379	0.98[ASN][1000 genomes]
rs17095386	0.98[ASN][1000 genomes]
rs1857927	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2055675	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2055676	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2055677	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2408083	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs2710453	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2710455	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2710459	0.82[CHB][hapmap]
rs2710460	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs34073769	0.80[EUR][1000 genomes]
rs34089464	0.80[EUR][1000 genomes]
rs34522210	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34608296	0.80[EUR][1000 genomes]
rs34685472	0.80[EUR][1000 genomes]
rs35018588	0.80[EUR][1000 genomes]
rs35139683	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35256979	0.80[EUR][1000 genomes]
rs35514455	0.80[EUR][1000 genomes]
rs35531664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35555451	0.80[EUR][1000 genomes]
rs35781370	0.80[EUR][1000 genomes]
rs35939831	0.80[EUR][1000 genomes]
rs4238095	0.82[CHB][hapmap]
rs4415832	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4768075	0.82[CHB][hapmap]
rs59431125	0.99[ASN][1000 genomes]
rs7138268	0.98[ASN][1000 genomes]
rs71459292	0.80[EUR][1000 genomes]
rs7298235	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7298963	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7299805	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7303544	1.00[ASN][1000 genomes]
rs7314773	0.82[ASN][1000 genomes]
rs7315173	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7315747	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73275548	0.91[AFR][1000 genomes]
rs74080428	0.96[ASN][1000 genomes]
rs7957052	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7957160	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7960817	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs7972347	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7976293	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs978696	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][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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