Variant report

Variant	rs11050021
Chromosome Location	chr12:29238216-29238217
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10771480	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10843316	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10843323	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050037	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050048	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050050	0.91[CEU][hapmap]
rs11050051	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050052	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050055	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050057	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050058	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050059	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050060	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11050070	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11531008	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11559799	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12227313	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12231262	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12579801	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1319749	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2099528	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4081964	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55705299	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55760218	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55892247	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56037667	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56140900	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56283843	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56347734	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56822691	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61359826	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487765	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487771	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6487772	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6487773	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487775	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487776	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7132730	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7134218	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7135888	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7136844	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7137951	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7138280	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295533	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7295687	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7296121	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299234	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7300218	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7301704	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7303704	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73065640	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73067768	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73071942	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73071962	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73071963	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73071968	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73071974	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7310157	0.92[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311077	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7312253	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7313804	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7486617	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7486644	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7953709	0.86[EUR][1000 genomes]
rs7966003	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7966088	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7970149	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7975883	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs986568	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs986569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs986570	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs995627	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs995629	0.85[AMR][1000 genomes];0.91[EUR][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11050021	C12orf72	cis	cerebellum	SCAN
rs11050021	DNM1L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29236200-29239400	Weak transcription	GM12878-XiMat	blood

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