Variant report

Variant	rs74015994
Chromosome Location	chr16:34793866-34793867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs11862087	0.86[EUR][1000 genomes]
rs11862741	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863543	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11864600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865286	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11865764	0.86[EUR][1000 genomes]
rs12102949	0.86[EUR][1000 genomes]
rs13331101	0.86[EUR][1000 genomes]
rs13332284	0.86[EUR][1000 genomes]
rs1501465	1.00[EUR][1000 genomes]
rs1532679	1.00[EUR][1000 genomes]
rs1583338	0.86[EUR][1000 genomes]
rs17052142	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17052144	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17052149	0.86[EUR][1000 genomes]
rs17052150	0.86[EUR][1000 genomes]
rs17052151	0.86[EUR][1000 genomes]
rs171123	0.86[EUR][1000 genomes]
rs17841547	0.85[AFR][1000 genomes]
rs17841548	1.00[EUR][1000 genomes]
rs17841551	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841552	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841553	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841557	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17841567	0.86[EUR][1000 genomes]
rs237977	0.86[EUR][1000 genomes]
rs237981	0.86[EUR][1000 genomes]
rs237992	0.86[EUR][1000 genomes]
rs28368765	0.86[EUR][1000 genomes]
rs28476565	0.86[EUR][1000 genomes]
rs28489613	0.86[EUR][1000 genomes]
rs28492033	0.86[EUR][1000 genomes]
rs28504660	0.86[EUR][1000 genomes]
rs345553	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3853179	0.86[EUR][1000 genomes]
rs41466646	0.86[EUR][1000 genomes]
rs42559	0.86[EUR][1000 genomes]
rs4627360	0.86[EUR][1000 genomes]
rs55947128	0.86[EUR][1000 genomes]
rs55990867	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56130601	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56150069	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56789577	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57748740	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58227353	0.86[EUR][1000 genomes]
rs58874752	0.86[EUR][1000 genomes]
rs59902571	0.86[EUR][1000 genomes]
rs59970187	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59987957	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60510786	0.86[EUR][1000 genomes]
rs60628599	1.00[EUR][1000 genomes]
rs61485382	0.86[EUR][1000 genomes]
rs61649499	1.00[EUR][1000 genomes]
rs6563876	0.86[EUR][1000 genomes]
rs6563877	0.86[EUR][1000 genomes]
rs6563878	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7185642	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7186375	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186948	0.86[EUR][1000 genomes]
rs7192596	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194464	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7197316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197656	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198853	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7198892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199661	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7202195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7204365	0.86[EUR][1000 genomes]
rs7205016	0.86[EUR][1000 genomes]
rs74015953	0.86[EUR][1000 genomes]
rs74015990	0.86[EUR][1000 genomes]
rs74015992	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015995	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74015996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018403	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018404	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018407	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018408	0.86[EUR][1000 genomes]
rs74018409	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018410	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74018412	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74018425	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018431	1.00[EUR][1000 genomes]
rs74018433	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018435	0.86[EUR][1000 genomes]
rs74018436	0.86[EUR][1000 genomes]
rs74018437	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018438	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018442	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018444	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018456	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018457	0.86[EUR][1000 genomes]
rs74018458	0.86[EUR][1000 genomes]
rs74018459	1.00[EUR][1000 genomes]
rs74018461	0.86[EUR][1000 genomes]
rs74018462	0.86[EUR][1000 genomes]
rs74018463	0.86[EUR][1000 genomes]
rs74018464	0.86[EUR][1000 genomes]
rs74018465	0.86[EUR][1000 genomes]
rs74018469	0.86[EUR][1000 genomes]
rs74018470	0.86[EUR][1000 genomes]
rs74018471	0.86[EUR][1000 genomes]
rs74018473	0.86[EUR][1000 genomes]
rs7499906	0.86[EUR][1000 genomes]
rs7500529	0.86[EUR][1000 genomes]
rs8045492	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8045606	0.86[EUR][1000 genomes]
rs8051145	0.86[EUR][1000 genomes]
rs8053475	1.00[EUR][1000 genomes]
rs8054064	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8054608	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8057388	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058675	1.00[EUR][1000 genomes]
rs8059170	1.00[EUR][1000 genomes]
rs8059333	0.86[EUR][1000 genomes]
rs8059400	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs822448	0.86[EUR][1000 genomes]
rs822693	0.86[EUR][1000 genomes]
rs9319436	0.86[EUR][1000 genomes]
rs9673348	0.86[EUR][1000 genomes]
rs979576	1.00[EUR][1000 genomes]
rs9921179	1.00[EUR][1000 genomes]
rs9923445	0.86[EUR][1000 genomes]
rs9932621	0.86[EUR][1000 genomes]
rs9932932	0.86[EUR][1000 genomes]
rs9936796	0.86[EUR][1000 genomes]
rs9937317	0.86[EUR][1000 genomes]
rs9939409	0.86[EUR][1000 genomes]
rs9940300	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv516385	chr16:34259805-34805859	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv431455	chr16:34359599-34796499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	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
8	esv2751590	chr16:34449700-34796531	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv833214	chr16:34657900-34856068	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	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
17	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34793400-34797800	Enhancers	NHEK	skin
2	chr16:34793600-34794800	Flanking Active TSS	Dnd41	blood
3	chr16:34793800-34794000	Enhancers	HMEC	breast

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