Variant report

Variant	rs1438935
Chromosome Location	chr5:152367546-152367547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10515680	0.96[EUR][1000 genomes]
rs1123202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113912	0.81[EUR][1000 genomes]
rs17490495	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490523	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490621	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490669	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491791	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17493016	1.00[ASN][1000 genomes]
rs17576736	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17578068	1.00[ASN][1000 genomes]
rs17578717	1.00[ASN][1000 genomes]
rs2349021	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34033163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4958332	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958603	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958605	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958608	1.00[ASN][1000 genomes]
rs60221066	0.96[EUR][1000 genomes]
rs67942753	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6886088	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887416	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284261	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284269	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284276	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284282	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284294	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998275	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv883049	chr5:152159184-152399894	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv600089	chr5:152200109-152488891	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1017812	chr5:152220845-152467431	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537928	chr5:152220845-152467431	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1017488	chr5:152239716-152383640	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv883050	chr5:152277537-152540026	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv883051	chr5:152327668-152409232	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv949596	chr5:152343943-152548821	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1438935	MYOZ3	cis	parietal	SCAN
rs1438935	SAP30L	cis	parietal	SCAN
rs1438935	SLC36A2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152365400-152368000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:152367200-152367800	Enhancers	Fetal Brain Female	brain
3	chr5:152367400-152370200	Weak transcription	Stomach Mucosa	stomach
4	chr5:152367400-152373000	Weak transcription	Fetal Brain Male	brain

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