Variant report

Variant	rs6558981
Chromosome Location	chr8:5064449-5064450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10091752	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10435675	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056538	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682169	0.87[EUR][1000 genomes]
rs13254355	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13265022	0.86[EUR][1000 genomes]
rs13273094	0.86[EUR][1000 genomes]
rs35090293	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35145522	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3935894	0.83[EUR][1000 genomes]
rs4073014	0.85[EUR][1000 genomes]
rs4369009	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4446757	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4490861	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606081	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67805611	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6992422	0.87[ASN][1000 genomes]
rs7012267	0.92[ASN][1000 genomes]
rs7460016	0.83[EUR][1000 genomes]
rs7460195	0.82[EUR][1000 genomes]
rs7842320	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1028846	chr8:4907673-5128665	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv831217	chr8:5007449-5210093	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1016696	chr8:5040671-5089101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	nsv982075	chr8:5054171-5064511	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv1019369	chr8:5057818-5102396	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6558981	DLGAP2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5062000-5066800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:5063400-5065600	Enhancers	Fetal Brain Female	brain
3	chr8:5063600-5065600	Enhancers	Brain Germinal Matrix	brain
4	chr8:5063800-5065600	Enhancers	Fetal Brain Male	brain
5	chr8:5064400-5064600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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