Variant report

Variant	rs3133788
Chromosome Location	chr8:96472820-96472821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10109801	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1354057	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1392795	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1500886	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1500887	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1500888	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1604253	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1604256	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1875313	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1875314	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28719146	0.82[AMR][1000 genomes]
rs3104922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3104923	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3104925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3104926	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3104927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3104928	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104934	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104936	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104937	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104938	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104941	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104942	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104944	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3104945	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133725	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3133783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133789	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133790	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133793	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133794	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3133796	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3968025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987556	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73272562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813246	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7813250	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs904919	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs904920	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026549	chr8:96367183-96573134	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539681	chr8:96367183-96573134	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1031846	chr8:96380353-96501647	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv539682	chr8:96380353-96501647	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030659	chr8:96380353-97142611	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv611760	chr8:96428448-96607028	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428823	chr8:96447739-96598307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv398341	chr8:96465511-96473913	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv465743	chr8:96472423-96518204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv611762	chr8:96472423-96518204	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3133788	AKR1C2	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96470600-96474800	Weak transcription	Left Ventricle	heart
2	chr8:96472000-96478600	Weak transcription	Aorta	Aorta

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