Variant report

Variant	rs79701139
Chromosome Location	chr5:70196970-70196971
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	TAF1	chr5:70196393-70197333	GM12891	blood:	n/a	n/a
2	SP1	chr5:70196745-70197020	GM12878	blood:	n/a	chr5:70196769-70196783
3	POLR2A	chr5:70196339-70197063	A549	lung:	n/a	n/a
4	TAF1	chr5:70196284-70197433	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr5:70196332-70197119	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:70196265-70197864	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:70196335-70197062	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:70196348-70197383	GM12891	blood:	n/a	n/a
9	PAX5	chr5:70196326-70197414	GM12878	blood:	n/a	chr5:70197344-70197353 chr5:70196486-70196495
10	POLR2A	chr5:70196439-70197062	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:70196299-70197398	H1-hESC	embryonic stem cell:	n/a	n/a
12	POU2F2	chr5:70196372-70196976	GM12891	blood:	n/a	chr5:70196768-70196780 chr5:70196761-70196773
13	POLR2A	chr5:70196295-70197142	SK-N-MC	brain:	n/a	n/a
14	TAF1	chr5:70196327-70197363	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:70196305-70197376	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:70196289-70196996	U87	brain:	n/a	n/a
17	POLR2A	chr5:70196352-70197024	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:70196152-70197520	GM12892	blood:	n/a	n/a
19	POLR2A	chr5:70196316-70197295	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:70196346-70197339	GM12878	blood:	n/a	n/a
21	TAF1	chr5:70196349-70197067	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:70196288-70197616	GM12878	blood:	n/a	n/a
23	TAF1	chr5:70196343-70197057	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr5:70196234-70197255	K562	blood:	n/a	n/a
25	NFIC	chr5:70196615-70197065	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:70196300-70197383	GM12891	blood:	n/a	n/a
27	POLR2A	chr5:70196264-70197037	SK-N-SH	brain:	n/a	n/a
28	POU2F2	chr5:70196252-70197439	GM12878	blood:	n/a	chr5:70196768-70196780 chr5:70197108-70197121 chr5:70196761-70196773
29	TAF1	chr5:70196381-70197318	GM12891	blood:	n/a	n/a
30	GABPA	chr5:70196801-70197025	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:70196256-70197027	ProgFib	skin:	n/a	n/a
32	POLR2A	chr5:70196289-70196997	HepG2	liver:	n/a	n/a
33	EBF1	chr5:70196440-70197041	GM12878	blood:	n/a	n/a
34	SP1	chr5:70196417-70197054	GM12878	blood:	n/a	chr5:70196769-70196783
35	SIN3AK20	chr5:70196404-70197073	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:70196346-70197075	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:70196277-70197507	GM12878	blood:	n/a	n/a
38	TAF1	chr5:70196342-70197142	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:70196287-70197003	A549	lung:	n/a	n/a
40	POLR2A	chr5:70196394-70197297	GM12891	blood:	n/a	n/a
41	IRF4	chr5:70196404-70197371	GM12878	blood:	n/a	n/a
42	IRF4	chr5:70196951-70197357	GM12878	blood:	n/a	n/a
43	BCL11A	chr5:70196457-70197013	GM12878	blood:	n/a	chr5:70196716-70196729 chr5:70196758-70196767 chr5:70196760-70196773
44	TAF1	chr5:70196338-70197065	GM12892	blood:	n/a	n/a
45	POLR2A	chr5:70196324-70197032	MCF-7	breast:	n/a	n/a
46	POU2F2	chr5:70196398-70196993	GM12878	blood:	n/a	chr5:70196768-70196780 chr5:70196761-70196773
47	TAF1	chr5:70196368-70197067	HepG2	liver:	n/a	n/a
48	POLR2A	chr5:70196390-70197029	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr5:70196348-70197071	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:70196391-70197429	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SERF1A	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:163 , 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	esv1806456	chr5:69790587-70212572	Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	nsv882011	chr5:70062545-70196970	Enhancers Weak transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
50	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

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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