Variant report

Variant	rs7841189
Chromosome Location	chr8:19845376-19845377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10096633	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1011685	0.98[ASN][1000 genomes]
rs1059611	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11570891	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11989309	0.89[ASN][1000 genomes]
rs12678603	0.89[ASN][1000 genomes]
rs12678604	0.89[ASN][1000 genomes]
rs12678919	0.98[ASN][1000 genomes]
rs12679834	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17091909	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17411024	1.00[ASN][1000 genomes]
rs17411113	1.00[ASN][1000 genomes]
rs17482753	0.98[ASN][1000 genomes]
rs1803924	0.95[ASN][1000 genomes]
rs28675909	0.91[ASN][1000 genomes]
rs325	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs328	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3735964	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6586884	1.00[ASN][1000 genomes]
rs6983430	0.89[ASN][1000 genomes]
rs6999813	1.00[ASN][1000 genomes]
rs7004149	0.89[ASN][1000 genomes]
rs7004158	0.89[ASN][1000 genomes]
rs7007609	0.89[ASN][1000 genomes]
rs7007797	0.89[ASN][1000 genomes]
rs7016880	0.89[ASN][1000 genomes]
rs7819706	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9644568	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890632	chr8:19816371-19853146	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolic syndrome	22399527	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7841189	ENTPD4	cis	parietal	SCAN
rs7841189	DOK2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19844000-19845400	Enhancers	Hela-S3	cervix
2	chr8:19844800-19845400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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