Variant report

Variant	rs12147273
Chromosome Location	chr14:44510169-44510170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10484236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569904	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1955975	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57519376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012600	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62012604	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012635	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8013785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067804	chr14:43856486-44623069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv491854	chr14:43856486-44623069	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1037244	chr14:43901126-44562876	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv542070	chr14:43901126-44562876	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv456254	chr14:44204571-44992259	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv564651	chr14:44204571-44992259	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1047006	chr14:44231111-44906514	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1038633	chr14:44234962-44901058	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1050364	chr14:44251367-44901134	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv530660	chr14:44259180-44862269	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv470639	chr14:44319623-44750752	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1049569	chr14:44346871-44814326	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv542073	chr14:44346871-44814326	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv564653	chr14:44352282-44858587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1049701	chr14:44372542-44856450	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	esv2758355	chr14:44399205-44644481	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2759985	chr14:44399205-44644481	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv901808	chr14:44418575-44570075	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1048705	chr14:44426673-44966741	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1054156	chr14:44429845-44659931	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv470640	chr14:44445118-44633697	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv456256	chr14:44445118-44634641	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv564656	chr14:44445118-44634641	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv901809	chr14:44445910-44536451	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv430998	chr14:44446984-44566587	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv901810	chr14:44455144-44524369	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	nsv901811	chr14:44462907-44536451	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv564658	chr14:44471675-44530722	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv901812	chr14:44471675-44536451	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
30	nsv564659	chr14:44471675-44539430	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
31	nsv564660	chr14:44471675-44540560	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	nsv456257	chr14:44486343-44530722	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
33	nsv456258	chr14:44486343-44530722	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
34	nsv564661	chr14:44486343-44530722	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
35	nsv901813	chr14:44486343-44536451	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
36	nsv456259	chr14:44486343-44539717	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
37	nsv564662	chr14:44486343-44539717	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
38	esv2757565	chr14:44488328-44539097	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases
39	nsv901814	chr14:44488467-44536451	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
40	nsv901815	chr14:44488467-44538232	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
41	nsv901816	chr14:44488467-44539097	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
42	nsv901817	chr14:44488467-44539430	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
43	nsv901818	chr14:44498811-44536451	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
44	nsv901819	chr14:44499948-44524369	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
45	nsv901820	chr14:44499948-44530722	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
46	nsv901821	chr14:44499948-44536451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
47	nsv1037243	chr14:44501117-44529900	Enhancers ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases
48	nsv1049350	chr14:44501117-44530443	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
49	esv2761834	chr14:44501117-44530455	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
50	esv2421330	chr14:44501117-44530722	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44510000-44510200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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