Variant report

Variant	rs567316773
Chromosome Location	chr5:70044845-70044846
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	FOSL2	chr5:70044333-70045012	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:70044166-70045003	GM12878	blood:	n/a	n/a
3	PAX5	chr5:70044093-70045041	GM12878	blood:	n/a	chr5:70044691-70044700
4	EP300	chr5:70044694-70044972	GM12878	blood:	n/a	n/a
5	IRF4	chr5:70044205-70045039	GM12878	blood:	n/a	n/a
6	TCF12	chr5:70044703-70044932	HepG2	liver:	n/a	n/a
7	SP1	chr5:70044560-70044911	HepG2	liver:	n/a	n/a
8	SP1	chr5:70044154-70044956	GM12878	blood:	n/a	n/a
9	PAX5	chr5:70044653-70044935	GM12878	blood:	n/a	chr5:70044691-70044700
10	ZBTB33	chr5:70044322-70045011	K562	blood:	n/a	n/a
11	TCF3	chr5:70044616-70044962	GM12878	blood:	n/a	n/a
12	BATF	chr5:70044671-70044872	GM12878	blood:	n/a	n/a
13	ZBTB33	chr5:70044588-70044916	HepG2	liver:	n/a	n/a
14	RXRA	chr5:70044717-70044921	HepG2	liver:	n/a	n/a
15	POU2F2	chr5:70044150-70045039	GM12878	blood:	n/a	chr5:70044200-70044221 chr5:70044590-70044601 chr5:70044592-70044601 chr5:70044593-70044600 chr5:70044200-70044222
16	SIX5	chr5:70044169-70044868	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253366	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827812	chr5:69229009-70161548	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598485	chr5:69254301-70251701	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv598496	chr5:69279340-70268280	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv598497	chr5:69279340-70271505	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv598500	chr5:69291141-70251701	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3490712	chr5:69311497-70160360	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3490713	chr5:69311497-70160360	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv497877	chr5:69372450-70328742	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv996313	chr5:69372472-70247802	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3378329	chr5:69397580-70162221	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv471489	chr5:69404245-70196075	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv533532	chr5:69426278-70309826	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	esv1795633	chr5:69449847-70161548	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv1813575	chr5:69551237-70051769	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1807513	chr5:69589662-70055434	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv598533	chr5:69688350-70379466	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	esv1805631	chr5:69705362-70657888	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv533487	chr5:69705592-70386571	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
19	nsv598536	chr5:69705610-70379466	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
20	nsv916065	chr5:69732162-70386594	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv533404	chr5:69732162-70587019	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	nsv918008	chr5:69732191-70587018	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
23	nsv529566	chr5:69732192-70309855	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	nsv529522	chr5:69732192-70386600	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
25	nsv1067570	chr5:69732192-70587018	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
26	nsv491621	chr5:69732192-70587018	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
27	nsv529287	chr5:69732192-70716662	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
28	esv1806613	chr5:69769393-70058095	Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
29	esv1796301	chr5:69769937-70158279	Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
30	esv1802832	chr5:69774391-70272755	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
31	esv1806456	chr5:69790587-70212572	Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
32	esv3436864	chr5:69829196-70068244	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
33	esv3471614	chr5:69829796-70067944	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
34	esv3471615	chr5:69829796-70067944	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
35	nsv820942	chr5:69829883-70074570	Active TSS Enhancers Weak transcription	TF binding region	3 gene(s)	inside rSNPs	diseases
36	nsv881985	chr5:69830067-70265120	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
37	nsv881986	chr5:69830067-70649421	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
38	esv21247	chr5:69830131-70074465	Weak transcription Active TSS Enhancers	TF binding region	3 gene(s)	inside rSNPs	diseases
39	esv21405	chr5:69830214-70497993	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
40	esv1802244	chr5:69834540-70059209	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
41	nsv511297	chr5:69835050-70071504	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
42	esv1844201	chr5:69841974-70301684	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
43	esv1795787	chr5:69842081-70055666	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
44	nsv492019	chr5:69843629-70386600	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
45	nsv491966	chr5:69843629-70587018	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
46	nsv497817	chr5:69843651-70587019	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
47	nsv968935	chr5:69849231-70048981	Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
48	esv1801400	chr5:69849569-70249692	Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
49	esv1847893	chr5:69849569-70301684	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
50	nsv830336	chr5:69857910-70101800	Weak transcription Enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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