Variant report

Variant	rs11180478
Chromosome Location	chr12:41648292-41648293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11180566	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180567	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180587	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180626	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180634	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838259	0.82[EUR][1000 genomes]
rs12296962	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297017	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297322	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300590	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300840	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300884	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300953	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302094	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305125	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305924	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306285	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307937	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310793	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313636	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315979	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377633	0.87[EUR][1000 genomes]
rs1367606	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431123	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431125	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431126	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129202	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129211	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082222	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217492	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405771	0.87[EUR][1000 genomes]
rs3858730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67832493	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268788	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73279870	0.82[EUR][1000 genomes]
rs73281725	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41637800-41651000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:41644800-41657200	Weak transcription	Ovary	ovary
3	chr12:41648200-41648600	Enhancers	Colon Smooth Muscle	Colon

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