Variant report

Variant	rs13439375
Chromosome Location	chr8:88759846-88759847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10092628	0.84[CEU][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs10093384	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11778533	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1178633	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12675263	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs12675590	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12677635	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs13251761	0.83[EUR][1000 genomes]
rs1507886	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2097943	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35930334	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55767621	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57990946	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468998	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72673112	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72673115	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72673119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72673131	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72673132	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7827917	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7828921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs7844301	0.81[ASN][1000 genomes]
rs9643015	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891167	chr8:88600593-88846956	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv831384	chr8:88746718-88917248	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv968516	chr8:88754170-88760731	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13439375	C8orf59	cis	parietal	SCAN
rs13439375	CA2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88759600-88760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:88759600-88761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:88759800-88760000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:88759800-88760000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:88759800-88760000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:88759800-88760000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:88759800-88760000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:88759800-88760600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:88759800-88760800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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