Variant report

Variant	rs1324899
Chromosome Location	chr1:86472073-86472074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11161719	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161721	0.81[ASN][1000 genomes]
rs12025755	0.81[EUR][1000 genomes]
rs12127813	0.89[EUR][1000 genomes]
rs2390005	0.89[EUR][1000 genomes]
rs2390006	0.89[EUR][1000 genomes]
rs2390007	0.89[EUR][1000 genomes]
rs2390008	0.89[EUR][1000 genomes]
rs28480217	0.89[EUR][1000 genomes]
rs4272648	0.89[EUR][1000 genomes]
rs4306156	0.89[EUR][1000 genomes]
rs4350224	0.89[EUR][1000 genomes]
rs4912453	0.88[EUR][1000 genomes]
rs4912454	0.88[EUR][1000 genomes]
rs56278817	0.81[EUR][1000 genomes]
rs6576795	0.89[EUR][1000 genomes]
rs6576798	0.90[EUR][1000 genomes]
rs6656538	0.88[EUR][1000 genomes]
rs6672098	0.88[EUR][1000 genomes]
rs7415711	0.83[EUR][1000 genomes]
rs7514604	0.81[EUR][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	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546758	chr1:86438327-86483632	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1324899	COL24A1	cis	Nerve Tibial	GTEx
rs1324899	COL24A1	cis	Artery Aorta	GTEx
rs1324899	COL24A1	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86459200-86472200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:86469800-86472400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86469800-86477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:86471800-86473800	ZNF genes & repeats	Fetal Lung	lung

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