Variant report

Variant	rs4559272
Chromosome Location	chr8:119525962-119525963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10090804	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs10097320	0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10104444	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10104761	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10110626	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111755	0.93[JPT][hapmap]
rs10113428	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11774748	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11774993	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12541156	0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12541178	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12545989	0.83[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12548521	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12549010	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12678125	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs13269467	0.86[ASN][1000 genomes]
rs13278633	0.86[ASN][1000 genomes]
rs13280603	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap]
rs2515027	0.86[ASN][1000 genomes]
rs2515055	0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2515056	0.86[ASN][1000 genomes]
rs2515059	0.86[ASN][1000 genomes]
rs28574967	0.86[ASN][1000 genomes]
rs4327885	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs4495457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4625062	0.85[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs6469752	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469754	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6982778	0.87[ASN][1000 genomes]
rs6984080	0.90[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7004852	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7012653	0.85[ASN][1000 genomes]
rs7823933	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7825490	0.83[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7825771	0.82[ASN][1000 genomes]
rs7826003	0.93[JPT][hapmap]
rs7836391	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297589	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4559272	MAL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119524200-119526200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:119524800-119526200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:119525800-119526200	Enhancers	Brain Substantia Nigra	brain

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