Variant report

Variant	rs8054608
Chromosome Location	chr16:34946088-34946089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs11862087	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11862741	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863543	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864600	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11864850	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11864877	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11865286	0.86[EUR][1000 genomes]
rs11865314	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11865764	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1304752	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13331101	0.86[EUR][1000 genomes]
rs1501465	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532679	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1583338	0.86[EUR][1000 genomes]
rs17052041	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17052142	0.86[EUR][1000 genomes]
rs17052144	0.86[EUR][1000 genomes]
rs17052149	0.86[EUR][1000 genomes]
rs17052150	0.86[EUR][1000 genomes]
rs17052151	0.86[EUR][1000 genomes]
rs17841544	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17841547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17841548	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841551	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841552	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841553	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841557	1.00[EUR][1000 genomes]
rs17841560	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17841561	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17841567	0.86[EUR][1000 genomes]
rs1994034	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2121877	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28368765	0.86[EUR][1000 genomes]
rs28504660	0.86[EUR][1000 genomes]
rs345553	1.00[EUR][1000 genomes]
rs41466646	0.86[EUR][1000 genomes]
rs55855405	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55873270	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55947128	0.86[EUR][1000 genomes]
rs55990867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56130601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150069	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56151540	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56389464	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56789577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57748740	1.00[EUR][1000 genomes]
rs58106048	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58227353	0.86[EUR][1000 genomes]
rs58874752	0.86[EUR][1000 genomes]
rs59208889	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59423657	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59902571	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59970187	1.00[EUR][1000 genomes]
rs59987957	1.00[EUR][1000 genomes]
rs60510786	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60628599	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61263121	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61485382	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61649499	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563877	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6563878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563886	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7184469	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7184498	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7185642	0.86[EUR][1000 genomes]
rs7186375	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186948	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7187499	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7192596	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197316	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7197656	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198853	1.00[EUR][1000 genomes]
rs7198892	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7199661	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7202195	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7204365	0.86[EUR][1000 genomes]
rs74015953	0.86[EUR][1000 genomes]
rs74015990	0.86[EUR][1000 genomes]
rs74015992	1.00[EUR][1000 genomes]
rs74015994	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015995	0.86[EUR][1000 genomes]
rs74015996	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74016118	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74016119	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74016120	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74016123	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74016124	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018403	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018404	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018407	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018408	0.86[EUR][1000 genomes]
rs74018409	1.00[EUR][1000 genomes]
rs74018425	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018431	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018434	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs74018435	0.86[EUR][1000 genomes]
rs74018436	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018445	0.81[AMR][1000 genomes]
rs74018456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018457	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018458	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018459	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018461	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018462	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018463	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018464	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018465	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018469	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018470	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018471	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018473	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018477	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018478	0.86[AFR][1000 genomes]
rs74018480	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018481	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018483	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018489	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74018493	0.86[EUR][1000 genomes]
rs7499906	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7500529	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8043965	0.81[AMR][1000 genomes]
rs8044470	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8045492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045606	0.86[EUR][1000 genomes]
rs8046677	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8051145	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8051969	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8052760	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053475	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057388	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058675	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059170	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059333	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8059400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060716	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9673348	0.86[EUR][1000 genomes]
rs979576	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932621	0.86[EUR][1000 genomes]
rs9939409	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067686	chr16:34202088-35147508	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
2	nsv532260	chr16:34202088-35147508	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv521817	chr16:34221454-35168832	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv521994	chr16:34221454-35168832	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
5	esv2757636	chr16:34436185-35042935	ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	esv34629	chr16:34449700-35139485	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
7	nsv431464	chr16:34467499-35122095	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	esv34862	chr16:34467540-35122095	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	nsv431488	chr16:34467540-35139485	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	nsv1056617	chr16:34543711-35283214	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv572385	chr16:34583626-35285582	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv918222	chr16:34739999-35076660	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv977088	chr16:34789235-34989803	Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv457486	chr16:34805859-35168832	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv572387	chr16:34805859-35168832	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv572388	chr16:34855095-34946088	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv9442	chr16:34875828-35025992	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv572389	chr16:34887695-34946088	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
19	nsv1059363	chr16:34935402-35283214	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34945200-34947600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr16:34945400-34946800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr16:34945600-34946200	Enhancers	Left Ventricle	heart
4	chr16:34945600-34946200	Enhancers	Right Atrium	heart
5	chr16:34946000-34946400	Active TSS	Fetal Heart	heart

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