Variant report

Variant	rs34217484
Chromosome Location	chr13:48854550-48854551
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10219833	0.97[EUR][1000 genomes]
rs12100135	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12583516	0.84[ASN][1000 genomes]
rs12871662	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12871740	0.92[EUR][1000 genomes]
rs12875750	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1573601	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1886795	0.91[EUR][1000 genomes]
rs1925744	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1925745	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981434	0.86[EUR][1000 genomes]
rs1981435	0.81[EUR][1000 genomes]
rs198634	0.91[ASN][1000 genomes]
rs2243461	0.91[EUR][1000 genomes]
rs2243626	0.92[EUR][1000 genomes]
rs2248488	0.93[EUR][1000 genomes]
rs2251813	0.91[EUR][1000 genomes]
rs2253520	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254423	0.92[EUR][1000 genomes]
rs2406933	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2854345	0.90[ASN][1000 genomes]
rs2854355	0.80[EUR][1000 genomes]
rs3803188	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809328	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818455	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4151520	0.83[ASN][1000 genomes]
rs4594153	0.93[EUR][1000 genomes]
rs4600372	0.90[EUR][1000 genomes]
rs520342	0.91[ASN][1000 genomes]
rs61973349	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7358982	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7984554	0.92[EUR][1000 genomes]
rs7984795	0.93[EUR][1000 genomes]
rs7999447	0.93[EUR][1000 genomes]
rs8001315	0.92[EUR][1000 genomes]
rs9316367	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9316369	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526465	0.85[EUR][1000 genomes]
rs9526466	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526470	0.93[EUR][1000 genomes]
rs9534998	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535000	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535002	0.92[EUR][1000 genomes]
rs9535003	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535006	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535007	0.93[EUR][1000 genomes]
rs9535009	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535011	0.97[EUR][1000 genomes]
rs9562815	0.81[ASN][1000 genomes]
rs9568025	0.84[ASN][1000 genomes]
rs9568026	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568027	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568028	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568029	0.93[EUR][1000 genomes]
rs9568032	0.91[ASN][1000 genomes]
rs9568033	0.91[ASN][1000 genomes]
rs9568034	0.91[ASN][1000 genomes]
rs9568035	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3429522	chr13:48853952-48855225	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34217484	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
3	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
4	chr13:48853400-48857000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:48853400-48860400	Weak transcription	Brain Substantia Nigra	brain

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