Variant report

Variant	rs9568059
Chromosome Location	chr13:49190014-49190015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009717	0.85[ASN][1000 genomes]
rs1009718	0.85[ASN][1000 genomes]
rs11840006	0.82[ASN][1000 genomes]
rs12867213	0.83[ASN][1000 genomes]
rs12874937	0.81[ASN][1000 genomes]
rs1323556	0.85[ASN][1000 genomes]
rs1575464	0.85[ASN][1000 genomes]
rs1575465	0.85[ASN][1000 genomes]
rs1575920	0.85[ASN][1000 genomes]
rs1854017	0.85[ASN][1000 genomes]
rs2406937	0.83[ASN][1000 genomes]
rs2406938	0.83[ASN][1000 genomes]
rs2406939	0.81[ASN][1000 genomes]
rs2407093	0.82[AFR][1000 genomes]
rs2407246	0.85[ASN][1000 genomes]
rs2897623	0.85[ASN][1000 genomes]
rs3945837	0.88[ASN][1000 genomes]
rs4451857	0.83[ASN][1000 genomes]
rs4942769	0.87[ASN][1000 genomes]
rs6561469	0.85[ASN][1000 genomes]
rs7323160	0.85[ASN][1000 genomes]
rs7332030	0.97[ASN][1000 genomes]
rs7336379	0.82[AFR][1000 genomes]
rs7990619	0.85[ASN][1000 genomes]
rs7990660	0.85[ASN][1000 genomes]
rs8000783	0.87[ASN][1000 genomes]
rs8001736	0.83[ASN][1000 genomes]
rs8002035	0.83[ASN][1000 genomes]
rs9535059	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535060	0.83[ASN][1000 genomes]
rs9562833	0.85[ASN][1000 genomes]
rs9568056	0.85[ASN][1000 genomes]
rs9568058	0.85[ASN][1000 genomes]
rs9568061	0.84[ASN][1000 genomes]
rs9568062	0.85[ASN][1000 genomes]
rs9568064	0.83[ASN][1000 genomes]
rs9568065	0.83[ASN][1000 genomes]
rs9568069	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9591187	0.83[ASN][1000 genomes]
rs9595937	0.90[AFR][1000 genomes]
rs9595943	0.83[ASN][1000 genomes]
rs9595944	0.83[ASN][1000 genomes]
rs9595945	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964413	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495983	chr13:49181790-49222165	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495984	chr13:49181790-49222165	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9568059	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49189000-49190400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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