Variant report

Variant	rs1480158
Chromosome Location	chr5:146418746-146418747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10059332	0.81[ASN][1000 genomes]
rs10067207	0.83[CEU][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10476881	0.82[ASN][1000 genomes]
rs10477316	0.82[ASN][1000 genomes]
rs10875618	0.85[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11167951	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11953078	0.84[JPT][hapmap]
rs13362410	0.86[ASN][1000 genomes]
rs1480157	0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2013009	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2400235	0.82[GIH][hapmap]
rs28813131	0.81[ASN][1000 genomes]
rs4489112	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4552686	0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705452	0.84[JPT][hapmap]
rs4705453	0.89[JPT][hapmap]
rs6876098	0.82[ASN][1000 genomes]
rs72827248	0.98[ASN][1000 genomes]
rs72827252	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827256	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72827261	0.80[ASN][1000 genomes]
rs9325028	0.85[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs9325030	0.87[GIH][hapmap]

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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1026599	chr5:146366481-146490089	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1480158	ERO1LB	trans	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146417600-146421000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:146418400-146418800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146418400-146419000	Enhancers	Brain Cingulate Gyrus	brain
4	chr5:146418600-146418800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:146418600-146419000	Enhancers	Brain Angular Gyrus	brain
6	chr5:146418600-146419000	Enhancers	Brain Substantia Nigra	brain
7	chr5:146418600-146419200	Enhancers	Brain Anterior Caudate	brain
8	chr5:146418600-146419200	Genic enhancers	Brain Hippocampus Middle	brain
9	chr5:146418600-146419400	Enhancers	Brain Inferior Temporal Lobe	brain

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