Variant report

Variant	rs12298871
Chromosome Location	chr12:48788977-48788978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10783256	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875804	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168547	0.82[CEU][hapmap]
rs11168576	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168629	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168630	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168631	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168634	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168635	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168636	1.00[CEU][hapmap]
rs11168638	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11168639	1.00[CEU][hapmap]
rs11168640	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12230448	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12230471	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12231229	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12300672	0.80[ASN][1000 genomes]
rs12303419	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122979	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17237094	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17237198	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17834022	1.00[CEU][hapmap]
rs2232570	1.00[JPT][hapmap]
rs2251773	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2468942	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705123	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2705126	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs2705133	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs2705141	0.80[ASN][1000 genomes]
rs2705161	1.00[CEU][hapmap]
rs2731071	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs2731073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs2731101	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs4489787	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580673	0.86[ASN][1000 genomes]
rs6580674	0.80[EUR][1000 genomes];0.86[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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12298871	C12orf54	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48784200-48789800	Weak transcription	Aorta	Aorta
2	chr12:48788200-48789400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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