Variant report

Variant	rs8063210
Chromosome Location	chr16:33795414-33795415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:33795400-33795550	WERI-Rb-1	eye:	n/a	chr16:33795495-33795513 chr16:33795455-33795468

Variant related genes	Relation type
ENSG00000261217	TF binding region

Extended variants
information (count: 191 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11859816	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11860090	0.83[EUR][1000 genomes]
rs11864195	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13330739	1.00[AMR][1000 genomes]
rs1865388	1.00[EUR][1000 genomes]
rs1982118	0.83[EUR][1000 genomes]
rs281591	0.83[EUR][1000 genomes]
rs281592	0.83[EUR][1000 genomes]
rs281593	0.83[EUR][1000 genomes]
rs281612	0.83[EUR][1000 genomes]
rs372431	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55775986	1.00[AMR][1000 genomes]
rs57998501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58011576	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58201018	0.83[EUR][1000 genomes]
rs58636981	0.83[EUR][1000 genomes]
rs59344183	0.83[EUR][1000 genomes]
rs60577816	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6563883	0.83[EUR][1000 genomes]
rs6607270	0.83[EUR][1000 genomes]
rs7187368	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7187610	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7189346	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7189850	1.00[AMR][1000 genomes]
rs7195912	1.00[AMR][1000 genomes]
rs7197480	1.00[AMR][1000 genomes]
rs7197934	1.00[AMR][1000 genomes]
rs7202187	1.00[AMR][1000 genomes]
rs7206004	0.83[EUR][1000 genomes]
rs74015423	1.00[AMR][1000 genomes]
rs74016504	0.81[AMR][1000 genomes]
rs7498910	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7500645	1.00[YRI][hapmap]
rs8043942	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8044485	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8045617	1.00[YRI][hapmap]
rs8049710	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8052728	1.00[CEU][hapmap]
rs8053695	1.00[CEU][hapmap]
rs8054991	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8057484	0.83[EUR][1000 genomes]
rs8062479	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8063616	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9925286	1.00[EUR][1000 genomes]
rs9934993	0.83[EUR][1000 genomes]
rs9936279	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060822	chr16:32815809-33811489	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1064889	chr16:32843688-33828742	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1059535	chr16:32872263-33828054	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1066620	chr16:32905866-33828742	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1058089	chr16:32950241-33828742	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1061411	chr16:32950241-33837886	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv1055781	chr16:32954713-33827050	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv1065011	chr16:32954713-33828054	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv1064084	chr16:32954713-33828742	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1063106	chr16:33002818-33811489	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv1060755	chr16:33035996-33836789	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1060353	chr16:33035996-33837886	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
13	nsv1055989	chr16:33054646-33837886	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
14	nsv1066297	chr16:33054646-34011271	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
15	esv3385738	chr16:33061216-33845406	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1065123	chr16:33097410-33811489	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
17	esv9755	chr16:33295236-33817983	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	esv1826361	chr16:33297524-33809333	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv572213	chr16:33298121-33795987	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv906535	chr16:33322107-33828270	Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv1066025	chr16:33338112-33811489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
22	nsv1059776	chr16:33338112-33827050	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
23	nsv1062934	chr16:33338112-33828054	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
24	nsv1058949	chr16:33338112-33828742	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
25	nsv1057991	chr16:33338112-33835307	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv1058407	chr16:33338112-33836789	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
27	nsv1065656	chr16:33338112-33837886	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	nsv1066806	chr16:33338112-33850074	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
29	nsv1056182	chr16:33338112-33864347	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
30	nsv1063683	chr16:33338112-34011271	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
31	esv1847338	chr16:33345231-33866314	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
32	nsv572217	chr16:33348524-33795987	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
33	nsv1055433	chr16:33361126-33811489	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
34	nsv1063816	chr16:33361126-33828054	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
35	nsv906544	chr16:33361278-33795687	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
36	nsv906545	chr16:33361278-33922285	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
37	nsv1064240	chr16:33363953-33811489	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
38	nsv572221	chr16:33366281-33796895	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
39	nsv1060484	chr16:33367075-33811489	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
40	nsv1061021	chr16:33367923-33811489	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
41	nsv1057453	chr16:33375872-33811489	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
42	nsv1064987	chr16:33375872-33827050	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
43	nsv1060142	chr16:33375872-33828054	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
44	nsv1061754	chr16:33375872-33927209	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	nsv1065259	chr16:33380754-33811489	ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
46	nsv906553	chr16:33386366-33828270	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
47	nsv1058688	chr16:33404128-33811489	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
48	nsv1060517	chr16:33404128-33827050	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
49	nsv1056311	chr16:33404128-33828742	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
50	nsv1058355	chr16:33404128-33864347	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33794600-33795600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr16:33795000-33795600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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