Variant report

Variant	rs551219
Chromosome Location	chr1:86519721-86519722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10873744	0.83[GIH][hapmap]
rs11161736	1.00[CHB][hapmap]
rs11161741	1.00[CHB][hapmap]
rs11161742	1.00[CHB][hapmap]
rs11161746	1.00[CHB][hapmap]
rs12023254	1.00[CHB][hapmap]
rs12024954	1.00[CHB][hapmap]
rs12048065	1.00[CHB][hapmap]
rs12057993	1.00[CHB][hapmap]
rs12075854	1.00[CHB][hapmap]
rs12117437	1.00[CHB][hapmap]
rs12120396	1.00[CHB][hapmap]
rs12759079	0.82[YRI][hapmap]
rs1507284	1.00[CHB][hapmap]
rs2039603	1.00[CHB][hapmap]
rs2390014	1.00[CHB][hapmap]
rs2892909	1.00[CHB][hapmap]
rs516213	0.85[GIH][hapmap];0.86[MEX][hapmap]
rs535637	0.80[GIH][hapmap];0.86[MEX][hapmap]
rs583315	0.85[GIH][hapmap];0.85[MEX][hapmap]
rs613060	0.82[GIH][hapmap]
rs61802175	0.95[EUR][1000 genomes]
rs618555	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6576806	1.00[CHB][hapmap]
rs6675364	1.00[CHB][hapmap]
rs6686446	1.00[CHB][hapmap]
rs6690902	1.00[CHB][hapmap]
rs7550559	1.00[CHB][hapmap]
rs7554463	0.82[YRI][hapmap]

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	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1010312	chr1:86469730-86686426	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525678	chr1:86487914-86549498	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012467	chr1:86494935-86686426	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs551219	COL24A1	cis	lymphoblastoid	seeQTL
rs551219	SYDE2	cis	parietal	SCAN
rs551219	COL24A1	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86507800-86520400	Weak transcription	Fetal Lung	lung
2	chr1:86518200-86519800	Enhancers	GM12878-XiMat	blood
3	chr1:86519200-86519800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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