Variant report

Variant	rs17653960
Chromosome Location	chr12:29186637-29186638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29185151..29186700-chr12:29188491..29190194,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11049981	0.83[ASN][1000 genomes]
rs1498795	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17704968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960925	0.82[EUR][1000 genomes]
rs55951138	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56014476	0.81[EUR][1000 genomes]
rs56019958	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56078711	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56823591	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629099	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58373348	0.81[EUR][1000 genomes]
rs59190473	0.81[EUR][1000 genomes]
rs60718845	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61641706	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7295808	0.94[CEU][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7301103	0.81[EUR][1000 genomes]
rs7310637	0.81[EUR][1000 genomes]
rs7315447	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74076209	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74076219	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076226	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076482	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74076486	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74076737	0.80[EUR][1000 genomes]
rs74076740	0.81[EUR][1000 genomes]
rs7957091	0.81[EUR][1000 genomes]
rs7966315	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978880	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9651837	0.90[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17653960	C12orf11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29183600-29188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:29185200-29186800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29186200-29191400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:29186200-29191400	Weak transcription	NHDF-Ad	bronchial

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