Variant report

Variant	rs553376014
Chromosome Location	chr5:70321594-70321595
allele	A/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	SPI1	chr5:70321020-70321983	GM12878	blood:	n/a	chr5:70321528-70321541
2	IRF4	chr5:70320993-70321846	GM12878	blood:	n/a	n/a
3	SP1	chr5:70321326-70321651	GM12878	blood:	n/a	n/a
4	SPI1	chr5:70321242-70321821	GM12891	blood:	n/a	chr5:70321528-70321541
5	BCL11A	chr5:70321231-70321752	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70321346-70321632	GM12878	blood:	n/a	n/a
7	SPI1	chr5:70321337-70321699	GM12878	blood:	n/a	chr5:70321528-70321541
8	SPI1	chr5:70321293-70321763	GM12878	blood:	n/a	chr5:70321528-70321541
9	POLR2A	chr5:70321100-70321914	GM12892	blood:	n/a	n/a
10	PAX5	chr5:70321119-70321830	GM12878	blood:	n/a	chr5:70321528-70321537
11	POLR2A	chr5:70321307-70321888	GM12892	blood:	n/a	n/a
12	IRF4	chr5:70321148-70321802	GM12878	blood:	n/a	n/a
13	SPI1	chr5:70321372-70321626	K562	blood:	n/a	chr5:70321528-70321541
14	SP1	chr5:70321421-70321766	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:70321317-70321949	GM12878	blood:	n/a	n/a
16	SPI1	chr5:70321285-70321812	GM12891	blood:	n/a	chr5:70321528-70321541
17	TCF3	chr5:70321347-70321742	GM12878	blood:	n/a	n/a
18	POU2F2	chr5:70321307-70321927	GM12878	blood:	n/a	n/a
19	TCF12	chr5:70321356-70321837	GM12878	blood:	n/a	n/a
20	SPI1	chr5:70321382-70321599	K562	blood:	n/a	chr5:70321528-70321541
21	TCF12	chr5:70321264-70321713	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NAIP	TF binding region

Extended variants
information (count: 211 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv881997	chr5:69886621-70498086	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv882000	chr5:69924203-70606506	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
20	nsv882003	chr5:69945222-70353003	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
21	nsv882004	chr5:69945222-70606506	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
22	nsv882005	chr5:69986376-70471631	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
23	nsv882008	chr5:70029358-70498086	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	nsv882013	chr5:70062545-70337808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
25	nsv882021	chr5:70072721-70337808	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
26	nsv882022	chr5:70072721-70415804	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
27	nsv882023	chr5:70072721-70485196	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
28	nsv882024	chr5:70072721-70498086	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
29	nsv882029	chr5:70081434-70471631	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
30	esv15058	chr5:70087253-70497993	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
31	esv1832784	chr5:70093901-70491255	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
32	nsv882032	chr5:70096904-70353003	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
33	nsv882033	chr5:70096904-70498086	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
34	nsv882034	chr5:70096904-70606506	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
35	esv1827019	chr5:70106816-70471891	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
36	nsv882040	chr5:70109362-70488078	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
37	nsv882041	chr5:70109362-70498086	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
38	nsv882055	chr5:70147682-70376491	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
39	nsv882056	chr5:70147682-70398523	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
40	nsv882057	chr5:70147682-70415804	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
41	nsv882058	chr5:70147682-70471631	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
42	nsv882059	chr5:70147682-70485196	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
43	nsv882063	chr5:70157837-70471631	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
44	esv10489	chr5:70161198-70425672	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
45	nsv882070	chr5:70166920-70353003	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
46	nsv882071	chr5:70166920-70398523	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
47	nsv882072	chr5:70166920-70450158	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
48	nsv882073	chr5:70166920-70471631	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
49	nsv882074	chr5:70166920-70488078	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
50	esv1814059	chr5:70174296-70391749	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

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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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