Variant report

Variant	rs558171591
Chromosome Location	chr5:70220416-70220417
allele	-/GGGGA
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	FOXA1	chr5:70220141-70221113	HepG2	liver:	n/a	n/a
2	TRIM28	chr5:70220405-70221425	K562	blood:	n/a	n/a
3	POU2F2	chr5:70220375-70221777	GM12878	blood:	n/a	n/a
4	MYBL2	chr5:70220377-70221362	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:70220321-70221395	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr5:70219928-70222006	GM12892	blood:	n/a	n/a
7	TAF1	chr5:70220398-70221393	H1-hESC	embryonic stem cell:	n/a	n/a
8	PAX5	chr5:70220336-70221421	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:70220372-70221795	Hela-S3	cervix:	n/a	n/a
10	SP1	chr5:70220396-70221393	GM12878	blood:	n/a	chr5:70220416-70220425 chr5:70220415-70220427 chr5:70220412-70220426
11	TAF1	chr5:70220414-70221336	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:70219925-70221919	GM12878	blood:	n/a	n/a
13	NFIC	chr5:70220316-70221420	GM12878	blood:	n/a	n/a
14	SIX5	chr5:70220372-70221234	A549	lung:	n/a	n/a
15	POLR2A	chr5:70220409-70221381	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:70220402-70220669	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr5:70220404-70221325	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:70219897-70221917	GM12892	blood:	n/a	n/a
19	POLR2A	chr5:70220334-70221840	GM12891	blood:	n/a	n/a
20	POLR2A	chr5:70220042-70221927	HepG2	liver:	n/a	n/a
21	CBX3	chr5:70220267-70221394	K562	blood:	n/a	n/a
22	POLR2A	chr5:70220415-70221344	A549	lung:	n/a	n/a
23	POLR2A	chr5:70220358-70221414	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:70220373-70221886	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
SMN1	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv881990	chr5:69866412-70305553	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
31	nsv881992	chr5:69880767-70305553	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
32	nsv881996	chr5:69886621-70305553	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
33	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
34	esv1825470	chr5:69894658-70281479	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
35	nsv881999	chr5:69924203-70265120	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
36	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
37	nsv882001	chr5:69927501-70299768	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
38	nsv882002	chr5:69927501-70305553	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
39	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
40	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
41	esv1843870	chr5:69962401-70281479	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
42	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
43	nsv882006	chr5:70029358-70265120	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
44	nsv882007	chr5:70029358-70291250	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
45	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
46	nsv882009	chr5:70042829-70275720	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
47	nsv882010	chr5:70042829-70305553	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
48	nsv882012	chr5:70062545-70291250	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
49	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
50	nsv882014	chr5:70072721-70265120	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70220200-70220800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:70220200-70220800	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:70220400-70220800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70220400-70220800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:70220400-70220800	Active TSS	Fetal Muscle Leg	muscle
6	chr5:70220400-70220800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:70220400-70220800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr5:70220400-70220800	Active TSS	Stomach Smooth Muscle	stomach

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