Variant report

Variant	rs8085804
Chromosome Location	chr18:40288293-40288294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12454144	0.81[EUR][1000 genomes]
rs12454146	0.81[EUR][1000 genomes]
rs12454214	0.81[EUR][1000 genomes]
rs12454989	0.85[EUR][1000 genomes]
rs12456082	0.86[EUR][1000 genomes]
rs12457128	0.82[EUR][1000 genomes]
rs12458705	0.86[EUR][1000 genomes]
rs12605254	0.87[EUR][1000 genomes]
rs13313639	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346889	0.81[EUR][1000 genomes]
rs1430908	0.82[EUR][1000 genomes]
rs1430910	0.86[EUR][1000 genomes]
rs1430911	0.86[EUR][1000 genomes]
rs1430912	0.86[EUR][1000 genomes]
rs1835497	0.82[EUR][1000 genomes]
rs2051334	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2116101	0.81[EUR][1000 genomes]
rs3810037	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861285	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3861288	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3910101	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4263023	0.82[EUR][1000 genomes]
rs4632207	0.86[EUR][1000 genomes]
rs58137875	0.81[EUR][1000 genomes]
rs606140	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs626676	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs633289	0.80[EUR][1000 genomes]
rs658728	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7234212	0.81[EUR][1000 genomes]
rs7236623	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7236781	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7242107	0.81[EUR][1000 genomes]
rs7359732	0.81[EUR][1000 genomes]
rs8085433	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8085638	0.86[EUR][1000 genomes]
rs8085891	0.81[EUR][1000 genomes]
rs8086502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8088723	0.87[EUR][1000 genomes]
rs8092254	0.87[EUR][1000 genomes]
rs8092588	0.85[EUR][1000 genomes]
rs8093235	0.84[EUR][1000 genomes]
rs8093431	0.84[EUR][1000 genomes]
rs8093569	0.84[EUR][1000 genomes]
rs8097737	0.86[EUR][1000 genomes]
rs8098670	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9916901	0.82[EUR][1000 genomes]
rs9944914	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9953625	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9954391	0.86[EUR][1000 genomes]
rs9959873	0.85[EUR][1000 genomes]
rs9963299	0.87[EUR][1000 genomes]
rs9965523	0.87[EUR][1000 genomes]
rs9973172	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[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	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1056794	chr18:40197837-40688514	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cognitive performance	19734545	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40286600-40288400	Enhancers	Dnd41	blood
2	chr18:40286800-40288400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:40288200-40288800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:40288200-40289000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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