Variant report

Variant	rs11050777
Chromosome Location	chr12:30421660-30421661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10506065	0.91[CEU][hapmap]
rs10771683	0.82[ASN][1000 genomes]
rs10771684	0.80[ASN][1000 genomes]
rs10843688	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10843691	0.82[ASN][1000 genomes]
rs10843693	0.82[ASN][1000 genomes]
rs10843695	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10843696	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10843699	0.82[ASN][1000 genomes]
rs10843700	0.82[ASN][1000 genomes]
rs10843701	0.82[ASN][1000 genomes]
rs11050765	0.82[AMR][1000 genomes]
rs11050776	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11050778	0.82[ASN][1000 genomes]
rs11050779	0.82[ASN][1000 genomes]
rs11050781	0.82[ASN][1000 genomes]
rs11050782	0.81[ASN][1000 genomes]
rs11050783	0.82[ASN][1000 genomes]
rs11050784	0.82[ASN][1000 genomes]
rs11050785	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11050787	0.82[ASN][1000 genomes]
rs11050788	0.82[ASN][1000 genomes]
rs11050789	0.82[ASN][1000 genomes]
rs11050790	0.82[ASN][1000 genomes]
rs11050791	0.82[ASN][1000 genomes]
rs11050792	0.82[ASN][1000 genomes]
rs11050793	0.82[ASN][1000 genomes]
rs11050796	0.82[ASN][1000 genomes]
rs11050798	1.00[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs11615012	0.84[EUR][1000 genomes]
rs12227866	0.82[ASN][1000 genomes]
rs12227878	0.82[ASN][1000 genomes]
rs12227920	0.82[ASN][1000 genomes]
rs12423648	0.82[ASN][1000 genomes]
rs1835250	0.82[ASN][1000 genomes]
rs1896900	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2115684	0.91[CEU][hapmap]
rs2195539	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2195541	0.82[ASN][1000 genomes]
rs2217388	0.82[ASN][1000 genomes]
rs2217389	0.82[ASN][1000 genomes]
rs3959962	0.82[ASN][1000 genomes]
rs4143644	0.82[ASN][1000 genomes]
rs4143645	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4423269	0.91[CEU][hapmap]
rs4930915	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4930920	0.82[ASN][1000 genomes]
rs4930921	0.82[ASN][1000 genomes]
rs4931311	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4931315	0.82[ASN][1000 genomes]
rs4931316	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57590563	0.82[ASN][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	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv430465	chr12:30377630-30422833	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1042966	chr12:30420183-30439329	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11050777	TSPAN11	cis	cerebellum	SCAN
rs11050777	IPO8	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30420800-30421800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:30420800-30421800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:30421200-30422000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:30421200-30422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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