Variant report

Variant	rs318307
Chromosome Location	chr8:90185460-90185461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10955937	0.82[ASN][1000 genomes]
rs11776005	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1240027	0.80[EUR][1000 genomes]
rs1240063	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1240070	0.86[EUR][1000 genomes]
rs1240072	0.86[EUR][1000 genomes]
rs1240080	0.86[EUR][1000 genomes]
rs1240081	0.86[EUR][1000 genomes]
rs12542049	0.82[AMR][1000 genomes]
rs1262791	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12677576	0.84[ASN][1000 genomes]
rs1483373	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681451	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1733918	0.83[EUR][1000 genomes]
rs2923309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318248	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs318249	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs318321	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs318327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384160	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs427521	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6986284	0.81[ASN][1000 genomes]
rs980020	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv2753596	chr8:90134084-90196984	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2756488	chr8:90143731-90202984	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1034759	chr8:90152834-90252502	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2761446	chr8:90158102-90202984	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv526917	chr8:90166429-90201937	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs318307	NPAS4	trans	brain	seeQTL
rs318307	CCL4	trans	brain	seeQTL
rs318307	PTGS2	trans	brain	seeQTL
rs318307	EGR4	trans	brain	seeQTL
rs318307	ARC	trans	brain	seeQTL
rs318307	BTG2	trans	brain	seeQTL
rs318307	EGR1	trans	brain	seeQTL
rs318307	EGR2	trans	brain	seeQTL
rs318307	GADD45G	trans	brain	seeQTL
rs318307	FOSB	trans	brain	seeQTL
rs318307	CCL3	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90185400-90187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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