Variant report

Variant	rs72615664
Chromosome Location	chr12:84580472-84580473
allele	C/T
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	POLR2A	chr12:84580087-84580551	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr12:84580103-84580545	SK-N-SH_RA	brain:	n/a	chr12:84580451-84580470
3	TEAD4	chr12:84580068-84580778	SK-N-SH	brain:	n/a	chr12:84580353-84580362
4	JUND	chr12:84580040-84580748	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr12:84579908-84580870	SK-N-SH	brain:	n/a	n/a
6	FOXM1	chr12:84580208-84580679	SK-N-SH	brain:	n/a	n/a
7	TAF1	chr12:84580329-84580485	SK-N-SH	brain:	n/a	n/a
8	FOXM1	chr12:84580127-84580698	SK-N-SH	brain:	n/a	n/a
9	JUND	chr12:84579967-84580721	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr12:84580016-84580730	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr12:84579976-84580774	SK-N-SH	brain:	n/a	n/a
12	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
13	GATA2	chr12:84580236-84580509	SH-SY5Y	brain:	n/a	n/a
14	TCF12	chr12:84579974-84580792	SK-N-SH	brain:	n/a	n/a
15	TEAD4	chr12:84580032-84580813	SK-N-SH	brain:	n/a	chr12:84580353-84580362
16	EP300	chr12:84579965-84580860	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr12:84580387-84580493	SH-SY5Y	brain:	n/a	n/a
18	RXRA	chr12:84580160-84580683	SK-N-SH	brain:	n/a	n/a
19	EP300	chr12:84579954-84580612	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr12:84580218-84580532	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr12:84580107-84580598	SK-N-SH	brain:	n/a	n/a
22	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
23	TCF12	chr12:84579885-84580919	SK-N-SH	brain:	n/a	n/a
24	ZBTB33	chr12:84580160-84580668	SK-N-SH	brain:	n/a	n/a
25	RAD21	chr12:84580096-84580515	SK-N-SH_RA	brain:	n/a	chr12:84580451-84580470
26	GATA3	chr12:84579876-84580843	SK-N-SH	brain:	n/a	n/a
27	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
28	PBX3	chr12:84579842-84580765	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr12:84580025-84580695	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000221148	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11116289	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12301485	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12322442	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12810631	0.86[AMR][1000 genomes]
rs12821359	0.85[AMR][1000 genomes]
rs12829102	0.90[AMR][1000 genomes]
rs34189312	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34227250	0.82[EUR][1000 genomes]
rs35614278	0.86[AMR][1000 genomes]
rs7138046	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71437092	0.87[EUR][1000 genomes]
rs7301137	0.89[EUR][1000 genomes]
rs7301385	0.87[EUR][1000 genomes]
rs7312050	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7965687	0.90[EUR][1000 genomes]
rs7973291	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899361	chr12:84189646-84729668	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899363	chr12:84450824-84940345	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1043204	chr12:84469896-84702070	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv559571	chr12:84470351-84697133	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559572	chr12:84470351-84716764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv559573	chr12:84473551-84650301	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv469500	chr12:84473551-84760604	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv559574	chr12:84473551-84760604	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv559575	chr12:84475895-84693591	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv899364	chr12:84480291-84663298	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1046435	chr12:84485769-84681481	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv541556	chr12:84485769-84681481	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1053284	chr12:84485769-84710310	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv469501	chr12:84489579-84596635	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv559576	chr12:84489579-84596635	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv469502	chr12:84489579-84636620	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv559577	chr12:84489579-84636620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv559578	chr12:84490325-84693591	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv899365	chr12:84511125-84940345	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv899366	chr12:84516512-84589672	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv899367	chr12:84522670-84663298	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv899368	chr12:84536107-84663298	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv899369	chr12:84536107-85067814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv1049941	chr12:84538655-84680213	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv1834509	chr12:84540934-84595585	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1835751	chr12:84540934-84595585	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1839015	chr12:84540934-84595585	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1844662	chr12:84555542-84595585	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv559579	chr12:84564068-84593586	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv559580	chr12:84570410-84595532	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv559581	chr12:84571480-84594196	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv899370	chr12:84571480-84729668	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv3449328	chr12:84577533-84617463	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv559582	chr12:84579264-84594145	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv559583	chr12:84579264-84595532	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv559584	chr12:84579264-84595585	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv559585	chr12:84579418-84595532	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1837220	chr12:84579418-84595585	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1842813	chr12:84579418-84595585	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1843672	chr12:84579418-84595585	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1846088	chr12:84579418-84595585	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1848178	chr12:84579418-84595585	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv559586	chr12:84579418-84595585	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv559587	chr12:84579949-84595532	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv559588	chr12:84579949-84595585	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv511503	chr12:84580225-84596635	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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