Variant report

Variant	rs11806244
Chromosome Location	chr1:86532070-86532071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10493787	0.82[ASN][1000 genomes]
rs10493788	0.82[ASN][1000 genomes]
rs11583563	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11588997	0.91[ASN][1000 genomes]
rs11802445	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12402809	0.82[ASN][1000 genomes]
rs12408108	0.82[ASN][1000 genomes]
rs12566718	0.91[ASN][1000 genomes]
rs12566940	0.91[ASN][1000 genomes]
rs12567495	0.82[ASN][1000 genomes]
rs12744313	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12753548	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12754154	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1408667	0.82[ASN][1000 genomes]
rs1408668	0.82[ASN][1000 genomes]
rs17405393	0.82[ASN][1000 genomes]
rs17406450	0.82[ASN][1000 genomes]
rs17406755	0.82[ASN][1000 genomes]
rs17414470	0.82[ASN][1000 genomes]
rs2221588	0.83[ASN][1000 genomes]
rs41313268	0.91[ASN][1000 genomes]
rs4912460	0.82[ASN][1000 genomes]
rs4912462	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs540159	0.82[ASN][1000 genomes]
rs565860	0.82[ASN][1000 genomes]
rs569541	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61783511	0.82[ASN][1000 genomes]
rs61800687	0.82[ASN][1000 genomes]
rs61800722	0.82[ASN][1000 genomes]
rs61800724	0.82[ASN][1000 genomes]
rs61800727	0.82[ASN][1000 genomes]
rs61800732	0.91[ASN][1000 genomes]
rs61800734	0.91[ASN][1000 genomes]
rs61802172	0.91[ASN][1000 genomes]
rs629683	0.82[ASN][1000 genomes]
rs645271	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6665582	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72716141	0.82[ASN][1000 genomes]
rs72716150	0.91[ASN][1000 genomes]
rs72716152	0.91[ASN][1000 genomes]
rs7414042	0.82[ASN][1000 genomes]
rs7514100	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7524738	0.83[ASN][1000 genomes]
rs7545716	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7548696	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1797916	chr1:86529538-86556298	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11806244	COL24A1	cis	Artery Aorta	GTEx
rs11806244	COL24A1	cis	Artery Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86523000-86533800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:86528600-86533200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:86528600-86533200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:86528600-86534000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:86528800-86533000	Weak transcription	Osteobl	bone
6	chr1:86530800-86533800	Weak transcription	Fetal Lung	lung
7	chr1:86531000-86533000	Weak transcription	HUVEC	blood vessel
8	chr1:86531400-86533800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:86531400-86534000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:86531800-86532200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:86531800-86533800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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