Variant report

Variant	rs13013221
Chromosome Location	chr2:134506286-134506287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10184200	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10496710	0.81[EUR][1000 genomes]
rs10496713	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11884849	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888079	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691846	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12989210	0.81[EUR][1000 genomes]
rs12989658	0.88[ASN][1000 genomes]
rs12993296	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993449	0.88[ASN][1000 genomes]
rs12995146	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996062	1.00[ASN][1000 genomes]
rs12996450	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12996471	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12998809	0.88[ASN][1000 genomes]
rs12998999	0.88[ASN][1000 genomes]
rs13002440	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13006611	0.91[EUR][1000 genomes]
rs13007239	0.88[ASN][1000 genomes]
rs13008209	0.88[ASN][1000 genomes]
rs13011121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013946	0.88[ASN][1000 genomes]
rs13015979	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017617	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13028951	0.88[ASN][1000 genomes]
rs13032020	1.00[ASN][1000 genomes]
rs13032581	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033059	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13036190	1.00[ASN][1000 genomes]
rs1374405	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446752	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562348	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1584239	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1867897	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869054	0.83[ASN][1000 genomes]
rs34454875	0.88[ASN][1000 genomes]
rs35961497	1.00[ASN][1000 genomes]
rs36066383	0.88[ASN][1000 genomes]
rs4256007	0.88[ASN][1000 genomes]
rs4440017	0.88[ASN][1000 genomes]
rs4536693	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62166122	0.81[EUR][1000 genomes]
rs62166124	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62167107	0.88[ASN][1000 genomes]
rs6716182	0.88[ASN][1000 genomes]
rs6716309	0.88[ASN][1000 genomes]
rs6726369	0.88[ASN][1000 genomes]
rs6726463	0.88[ASN][1000 genomes]
rs7559696	0.81[EUR][1000 genomes]
rs7568394	0.88[ASN][1000 genomes]
rs7568496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574116	0.88[ASN][1000 genomes]
rs9917166	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13013221	MZT2B	cis	parietal	SCAN
rs13013221	CCDC115	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134503600-134506600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134505400-134506400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:134505400-134506600	Enhancers	NHDF-Ad	bronchial
4	chr2:134505400-134507200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:134505600-134506400	Enhancers	Fetal Lung	lung
6	chr2:134505600-134506400	Enhancers	NH-A	brain
7	chr2:134505600-134506400	Enhancers	Osteobl	bone
8	chr2:134505800-134511400	Weak transcription	Left Ventricle	heart
9	chr2:134506000-134507000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:134506000-134507800	Weak transcription	Fetal Kidney	kidney
11	chr2:134506000-134512800	Weak transcription	NHLF	lung
12	chr2:134506200-134507000	Weak transcription	Fetal Heart	heart

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