Variant report

Variant	rs11182790
Chromosome Location	chr12:45403394-45403395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10506259	1.00[AMR][1000 genomes]
rs10880694	1.00[AMR][1000 genomes]
rs10880698	1.00[AMR][1000 genomes]
rs10880699	1.00[AMR][1000 genomes]
rs10880727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880731	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182700	0.89[AMR][1000 genomes]
rs11182704	1.00[AMR][1000 genomes]
rs11182709	1.00[AMR][1000 genomes]
rs11182712	1.00[AMR][1000 genomes]
rs11182713	1.00[AMR][1000 genomes]
rs11182714	1.00[AMR][1000 genomes]
rs11182717	1.00[AMR][1000 genomes]
rs11182722	1.00[AMR][1000 genomes]
rs11182724	1.00[AMR][1000 genomes]
rs11182725	1.00[AMR][1000 genomes]
rs11182730	1.00[AMR][1000 genomes]
rs11182770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182796	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182806	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182807	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182808	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182809	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182812	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227311	1.00[AMR][1000 genomes]
rs12227622	0.89[AMR][1000 genomes]
rs12228073	1.00[AMR][1000 genomes]
rs12228476	1.00[AMR][1000 genomes]
rs12579006	1.00[EUR][1000 genomes]
rs12580287	1.00[AMR][1000 genomes]
rs12580562	1.00[EUR][1000 genomes]
rs12581653	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581852	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581880	1.00[EUR][1000 genomes]
rs12581903	1.00[AMR][1000 genomes]
rs12582602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12829945	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095196	1.00[AMR][1000 genomes]
rs17095198	1.00[AMR][1000 genomes]
rs3803172	1.00[EUR][1000 genomes]
rs3803174	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803175	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57726055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59646766	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7300104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315817	1.00[EUR][1000 genomes];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	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
2	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
3	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

No data

Chromatin state (count:4 , 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
3	chr12:45401600-45405000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:45401800-45404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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