Variant report

Variant	rs10747327
Chromosome Location	chr1:86655573-86655574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10873763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108394	0.81[EUR][1000 genomes]
rs1108396	0.81[EUR][1000 genomes]
rs11161736	1.00[JPT][hapmap]
rs11161741	0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11161742	1.00[JPT][hapmap]
rs11161743	0.84[GIH][hapmap]
rs11161746	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs11161772	0.87[EUR][1000 genomes]
rs12023254	1.00[JPT][hapmap]
rs12024954	1.00[JPT][hapmap]
rs12048065	1.00[JPT][hapmap]
rs12057993	1.00[JPT][hapmap]
rs12075854	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs12117437	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs12120396	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs1507284	1.00[JPT][hapmap]
rs2039603	0.84[GIH][hapmap];1.00[JPT][hapmap]
rs2135809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390014	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs2892909	1.00[JPT][hapmap]
rs4655842	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4655916	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656122	1.00[JPT][hapmap]
rs6420969	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6420970	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576806	0.89[GIH][hapmap];1.00[JPT][hapmap]
rs6576809	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6576810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576812	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6576815	0.96[EUR][1000 genomes]
rs6576816	0.96[EUR][1000 genomes]
rs6675364	0.84[GIH][hapmap];1.00[JPT][hapmap]
rs6686446	1.00[JPT][hapmap]
rs6690902	1.00[JPT][hapmap]
rs71499360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74097324	0.96[EUR][1000 genomes]
rs7411591	0.96[EUR][1000 genomes]
rs7511838	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7529577	0.96[EUR][1000 genomes]
rs7550559	0.84[GIH][hapmap];1.00[JPT][hapmap]
rs7550571	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9432988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9433001	0.96[EUR][1000 genomes]
rs9433431	0.81[EUR][1000 genomes]
rs9433445	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv1009092	chr1:86532988-86724805	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535024	chr1:86532988-86724805	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv830481	chr1:86550274-86737290	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10747327	COL24A1	cis	parietal	SCAN
rs10747327	MYBPC2	trans	lymphoblastoid	seeQTL
rs10747327	LOC339524	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86655200-86655600	Active TSS	Fetal Lung	lung

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