Variant report

Variant	rs201014926
Chromosome Location	chr5:17599213-17599214
allele	C/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	FOXA1	chr5:17599208-17599777	HepG2	liver:	n/a	n/a
2	ZBTB33	chr5:17598379-17599706	GM12878	blood:	n/a	n/a
3	POU2F2	chr5:17599005-17599751	GM12878	blood:	n/a	n/a
4	PAX5	chr5:17599105-17599642	GM12878	blood:	n/a	n/a
5	SP1	chr5:17599119-17599778	GM12878	blood:	n/a	n/a
6	ZBTB33	chr5:17599204-17599602	HepG2	liver:	n/a	n/a
7	SIX5	chr5:17599026-17599724	K562	blood:	n/a	n/a
8	BCL11A	chr5:17599180-17599635	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:17598916-17599685	Hela-S3	cervix:	n/a	n/a
10	EP300	chr5:17599190-17599616	GM12878	blood:	n/a	n/a
11	PAX5	chr5:17599106-17599637	GM12878	blood:	n/a	n/a
12	BATF	chr5:17599128-17599665	GM12878	blood:	n/a	n/a
13	EBF1	chr5:17599108-17599412	GM12878	blood:	n/a	n/a
14	TAF1	chr5:17599194-17599736	Hela-S3	cervix:	n/a	n/a
15	RXRA	chr5:17599171-17599674	HepG2	liver:	n/a	chr5:17599498-17599507
16	HEY1	chr5:17599029-17599638	K562	blood:	n/a	n/a
17	FOSL2	chr5:17599127-17599711	HepG2	liver:	n/a	chr5:17599536-17599548
18	JUND	chr5:17599201-17599502	HepG2	liver:	n/a	n/a
19	USF1	chr5:17599199-17599602	HepG2	liver:	n/a	n/a
20	ZBTB33	chr5:17599009-17599755	K562	blood:	n/a	n/a
21	SIN3AK20	chr5:17599204-17599646	HepG2	liver:	n/a	n/a
22	GABPA	chr5:17599202-17599665	Hela-S3	cervix:	n/a	n/a
23	SP1	chr5:17599106-17599759	GM12878	blood:	n/a	n/a
24	GATA2	chr5:17599111-17599762	K562	blood:	n/a	n/a
25	FOSL2	chr5:17599107-17599686	HepG2	liver:	n/a	chr5:17599536-17599548
26	SIX5	chr5:17599019-17599759	K562	blood:	n/a	n/a
27	TCF12	chr5:17599199-17599620	GM12878	blood:	n/a	n/a
28	PBX3	chr5:17599207-17599540	GM12878	blood:	n/a	n/a
29	RXRA	chr5:17598378-17599784	HepG2	liver:	n/a	chr5:17599498-17599507
30	SP1	chr5:17599014-17599742	HepG2	liver:	n/a	n/a
31	EBF1	chr5:17599191-17599670	GM12878	blood:	n/a	n/a
32	ZBTB33	chr5:17599014-17599648	GM12878	blood:	n/a	n/a
33	FOXA2	chr5:17595524-17599626	A549	lung:	n/a	n/a
34	PAX5	chr5:17599106-17599563	GM12878	blood:	n/a	n/a
35	TAF1	chr5:17599124-17599733	Hela-S3	cervix:	n/a	n/a
36	PAX5	chr5:17598376-17599763	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:17599100-17599747	GM12878	blood:	n/a	n/a
38	GABPA	chr5:17599027-17599761	Hela-S3	cervix:	n/a	n/a
39	EP300	chr5:17599016-17599765	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:17599183-17599410	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF3	chr5:17599160-17599673	GM12878	blood:	n/a	n/a
42	JUND	chr5:17599106-17599671	HepG2	liver:	n/a	chr5:17599536-17599548
43	TCF12	chr5:17599209-17599674	GM12878	blood:	n/a	n/a
44	SPI1	chr5:17599127-17599655	GM12878	blood:	n/a	chr5:17599365-17599378 chr5:17599367-17599376 chr5:17599364-17599377
45	USF1	chr5:17599200-17599328	HepG2	liver:	n/a	n/a
46	SIX5	chr5:17599106-17599753	GM12878	blood:	n/a	n/a
47	ZBTB33	chr5:17599031-17599751	K562	blood:	n/a	n/a
48	SPI1	chr5:17599192-17599658	K562	blood:	n/a	chr5:17599365-17599378 chr5:17599367-17599376 chr5:17599364-17599377
49	POLR2A	chr5:17599116-17599429	GM12878	blood:	n/a	n/a
50	IRF4	chr5:17598916-17599778	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000249427	TF binding region
ENSG00000249329	TF binding region
ENSG00000248422	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	esv2757108	chr5:17398090-17804346	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv1030762	chr5:17398399-17690362	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv461989	chr5:17403618-17719837	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv597330	chr5:17403618-17719837	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
15	esv1844113	chr5:17412573-17721569	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv1025447	chr5:17440571-17642539	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	esv2760941	chr5:17441627-17707263	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv516462	chr5:17469464-17681091	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	nsv1031685	chr5:17472891-17625621	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv1026254	chr5:17472891-17655339	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv1024026	chr5:17481599-17604609	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv1033149	chr5:17481599-17630463	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	nsv1034577	chr5:17481599-17687842	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
24	nsv515020	chr5:17484090-17656139	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1810623	chr5:17489524-17677167	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	nsv1023179	chr5:17490741-17630463	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1024063	chr5:17490741-17665329	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	esv1813284	chr5:17490761-17676035	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	nsv1018271	chr5:17491212-17604609	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
30	nsv1019554	chr5:17491212-17665329	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
31	nsv1030450	chr5:17491429-17604609	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	esv3349779	chr5:17491735-17620964	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
33	nsv10674	chr5:17495989-17799341	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
34	esv3450032	chr5:17496567-17670408	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
35	nsv1025028	chr5:17496607-17642539	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
36	nsv1030356	chr5:17496857-17625621	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
37	nsv1026864	chr5:17496857-17642539	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
38	nsv1019396	chr5:17496857-17668223	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
39	esv6319	chr5:17498874-17606003	ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
40	esv4276	chr5:17499390-17641034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
41	esv3507150	chr5:17499670-17636007	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
42	esv3507152	chr5:17499670-17636007	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
43	esv1812460	chr5:17500456-17678424	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
44	nsv1017593	chr5:17500814-17625621	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
45	nsv1033803	chr5:17500814-17642539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
46	esv2763885	chr5:17500826-17748073	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
47	esv3327546	chr5:17501781-17642659	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
48	esv3471476	chr5:17503290-17642608	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
49	esv3471477	chr5:17503290-17642608	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
50	nsv870405	chr5:17506249-17652752	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

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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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