Variant report

Variant	rs11183578
Chromosome Location	chr12:47108663-47108664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1008637	0.86[CEU][hapmap]
rs10785636	0.89[EUR][1000 genomes]
rs10785637	0.98[EUR][1000 genomes]
rs10785638	0.91[EUR][1000 genomes]
rs10785639	0.85[EUR][1000 genomes]
rs10880988	0.85[EUR][1000 genomes]
rs10880990	0.82[EUR][1000 genomes]
rs10880991	0.81[EUR][1000 genomes]
rs10880993	1.00[EUR][1000 genomes]
rs10880995	0.98[EUR][1000 genomes]
rs11183565	0.90[EUR][1000 genomes]
rs11183566	0.87[EUR][1000 genomes]
rs11183568	0.82[EUR][1000 genomes]
rs11183570	0.82[EUR][1000 genomes]
rs11183574	0.82[EUR][1000 genomes]
rs11183580	0.86[EUR][1000 genomes]
rs11183584	0.82[EUR][1000 genomes]
rs11520328	0.82[EUR][1000 genomes]
rs12372653	0.82[EUR][1000 genomes]
rs12829168	0.82[EUR][1000 genomes]
rs2080688	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098513	0.94[EUR][1000 genomes]
rs2408619	0.88[EUR][1000 genomes]
rs2408620	0.86[EUR][1000 genomes]
rs2429474	0.95[CEU][hapmap];0.94[GIH][hapmap];0.88[TSI][hapmap]
rs2430922	0.95[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs2465583	0.95[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap]
rs2465644	0.95[CEU][hapmap]
rs2715779	0.95[CEU][hapmap]
rs4603389	0.98[EUR][1000 genomes]
rs4768748	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582672	0.98[EUR][1000 genomes]
rs6582674	0.82[EUR][1000 genomes]
rs7136299	0.83[EUR][1000 genomes]
rs7305578	0.98[EUR][1000 genomes]
rs7311780	0.90[EUR][1000 genomes]
rs7959739	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975961	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11183578	DBX2	cis	parietal	SCAN
rs11183578	HDAC7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47103000-47116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:47105200-47111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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