Variant report

Variant	rs9311598
Chromosome Location	chr3:56207809-56207810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56207636-56208048	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ERC2	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11707901	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11712770	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11716452	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716632	0.83[EUR][1000 genomes]
rs11719428	0.87[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12636541	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12639313	0.87[EUR][1000 genomes]
rs13065094	0.83[ASN][1000 genomes]
rs1352013	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1352014	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1452208	0.86[EUR][1000 genomes]
rs1452216	0.83[EUR][1000 genomes]
rs1485679	0.80[EUR][1000 genomes]
rs17235431	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17634512	0.87[EUR][1000 genomes]
rs2316861	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28823346	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35721039	0.86[EUR][1000 genomes]
rs4974185	0.80[EUR][1000 genomes]
rs4974186	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55853651	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6445777	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6763223	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6764950	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6774658	0.87[EUR][1000 genomes]
rs6786714	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73080547	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73080560	0.86[EUR][1000 genomes]
rs7616016	0.82[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7636668	0.83[ASN][1000 genomes]
rs9311599	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs991335	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009709	chr3:56000827-56294945	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9311598	DNAH12	cis	cerebellum	SCAN
rs9311598	ACTR8	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56207200-56208000	Active TSS	Brain Anterior Caudate	brain
2	chr3:56207200-56208000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:56207400-56208000	Active TSS	Brain Angular Gyrus	brain
4	chr3:56207400-56208000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:56207400-56208200	Enhancers	Fetal Brain Female	brain
6	chr3:56207600-56208000	Enhancers	Fetal Brain Male	brain

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