Variant report

Variant	rs10218454
Chromosome Location	chr1:158362442-158362443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10218835	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1040808	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799792	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11801558	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802447	0.96[AFR][1000 genomes]
rs12728922	0.83[EUR][1000 genomes]
rs12740657	0.81[EUR][1000 genomes]
rs12742463	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12746150	0.83[EUR][1000 genomes]
rs12746659	0.83[EUR][1000 genomes]
rs12747417	0.83[EUR][1000 genomes]
rs12756570	0.83[EUR][1000 genomes]
rs12756846	0.83[EUR][1000 genomes]
rs12760278	0.83[EUR][1000 genomes]
rs1321644	0.94[AFR][1000 genomes]
rs34460006	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34789355	0.83[EUR][1000 genomes]
rs34978214	0.83[EUR][1000 genomes]
rs35150375	0.81[EUR][1000 genomes]
rs35289606	0.83[EUR][1000 genomes]
rs35301262	0.83[EUR][1000 genomes]
rs58929010	0.96[AFR][1000 genomes]
rs71579615	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71632611	0.83[EUR][1000 genomes]
rs717727	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs717728	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription 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	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998569	chr1:158317392-158443389	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10218454	C1orf68	cis	cerebellum	SCAN
rs10218454	CD1A	cis	multi-tissue	Pritchard
rs10218454	DUSP23	cis	parietal	SCAN
rs10218454	LMNA	cis	parietal	SCAN
rs10218454	ISG20L2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158358800-158362600	Enhancers	Dnd41	blood
2	chr1:158360200-158363800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:158360800-158364000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:158361200-158365400	Weak transcription	Thymus	Thymus
5	chr1:158362000-158365400	Weak transcription	Fetal Thymus	thymus

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