Variant report

Variant	rs28517418
Chromosome Location	chr15:30402721-30402722
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	BCL11A	chr15:30402711-30402962	GM12878	blood:	n/a	chr15:30402839-30402848 chr15:30402794-30402803
2	GABPA	chr15:30402708-30403116	Hela-S3	cervix:	n/a	chr15:30402797-30402804
3	PAX5	chr15:30402577-30403114	GM12878	blood:	n/a	chr15:30402794-30402803
4	POLR2A	chr15:30402649-30403111	Hela-S3	cervix:	n/a	n/a
5	NR3C1	chr15:30402389-30403219	A549	lung:	n/a	chr15:30402525-30402532 chr15:30403129-30403145 chr15:30403130-30403144 chr15:30403129-30403145 chr15:30403129-30403145
6	POLR2A	chr15:30402688-30403166	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:30402704-30402815	A549	lung:	n/a	n/a
8	SPI1	chr15:30402703-30402897	GM12878	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
9	BCL11A	chr15:30402651-30402946	GM12878	blood:	n/a	chr15:30402839-30402848 chr15:30402794-30402803
10	SPI1	chr15:30402599-30403029	GM12891	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
11	PAX5	chr15:30402638-30403145	GM12878	blood:	n/a	chr15:30402794-30402803 chr15:30403125-30403134
12	BATF	chr15:30402704-30403029	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
13	FOXA2	chr15:30402423-30403129	A549	lung:	n/a	n/a
14	SPI1	chr15:30402705-30402858	K562	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
15	SPI1	chr15:30402641-30403091	GM12891	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
16	EBF1	chr15:30402700-30403169	GM12878	blood:	n/a	n/a
17	SP1	chr15:30402667-30402983	GM12878	blood:	n/a	n/a
18	FOSL2	chr15:30402591-30403060	HepG2	liver:	n/a	chr15:30402838-30402850 chr15:30402839-30402849 chr15:30402839-30402849 chr15:30402840-30402848 chr15:30402837-30402848
19	GATA2	chr15:30402314-30402753	K562	blood:	n/a	chr15:30402556-30402573
20	SIN3AK20	chr15:30402715-30402922	HepG2	liver:	n/a	n/a
21	SP1	chr15:30402689-30403014	GM12878	blood:	n/a	n/a
22	FOXA1	chr15:30402451-30402756	HepG2	liver:	n/a	n/a
23	TAF1	chr15:30402690-30403108	Hela-S3	cervix:	n/a	n/a
24	IRF4	chr15:30402624-30403091	GM12878	blood:	n/a	n/a
25	SPI1	chr15:30402584-30403044	GM12878	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
26	NR3C1	chr15:30402478-30403350	A549	lung:	n/a	chr15:30402525-30402532 chr15:30403129-30403145 chr15:30403130-30403144 chr15:30403129-30403145 chr15:30403129-30403145
27	SPI1	chr15:30402677-30402892	K562	blood:	n/a	chr15:30402793-30402806 chr15:30402795-30402804
28	JUND	chr15:30402623-30403099	A549	lung:	n/a	chr15:30402838-30402850 chr15:30402839-30402849 chr15:30402839-30402849 chr15:30402840-30402848
29	EBF1	chr15:30402712-30403098	GM12878	blood:	n/a	n/a
30	POU2F2	chr15:30402389-30402990	GM12878	blood:	n/a	n/a
31	JUND	chr15:30402692-30403098	HepG2	liver:	n/a	chr15:30402838-30402850 chr15:30402839-30402849 chr15:30402839-30402849 chr15:30402840-30402848
32	BATF	chr15:30402631-30402999	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
33	FOSL2	chr15:30402559-30403090	HepG2	liver:	n/a	chr15:30402838-30402850 chr15:30402839-30402849 chr15:30402839-30402849 chr15:30402840-30402848 chr15:30402837-30402848

Variant related genes	Relation type
ULK4P3	TF binding region
ENSG00000207432	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv2751527	chr15:30245808-30605836	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427954	chr15:30292944-30458813	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1819007	chr15:30292944-31018462	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	esv1824179	chr15:30292944-31051705	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv428300	chr15:30292944-31051705	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv2758374	chr15:30292944-31152491	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	esv2760022	chr15:30292944-31177476	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	esv1823206	chr15:30308088-30858486	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv832946	chr15:30318810-30507542	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv518720	chr15:30346230-31106826	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
12	esv1821764	chr15:30348514-30926365	Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv1816989	chr15:30352811-30910092	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	esv1820957	chr15:30353491-30901911	Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	esv1817932	chr15:30362487-30950529	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	nsv869831	chr15:30366124-31115047	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
17	esv1008245	chr15:30366457-30445008	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv903757	chr15:30369153-31179534	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
19	nsv1044368	chr15:30369914-30900866	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	40 gene(s)	inside rSNPs	diseases
20	nsv1053277	chr15:30369914-31087321	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
21	nsv1053894	chr15:30369914-31088465	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
22	esv2760396	chr15:30369914-31099626	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
23	nsv1039789	chr15:30370019-30900866	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv1040604	chr15:30370019-30920612	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
25	esv1821800	chr15:30370548-30682265	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	21 gene(s)	inside rSNPs	diseases
26	esv1821978	chr15:30372082-30954110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
27	esv1822009	chr15:30372082-30956242	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
28	esv1821068	chr15:30372282-30685516	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	21 gene(s)	inside rSNPs	diseases
29	esv1820651	chr15:30372282-30910092	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	41 gene(s)	inside rSNPs	diseases
30	nsv568717	chr15:30382120-30760974	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	25 gene(s)	inside rSNPs	diseases
31	nsv568718	chr15:30382120-30918248	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
32	nsv9232	chr15:30384844-31090547	Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
33	nsv1040151	chr15:30386399-30505750	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
34	nsv1043128	chr15:30386399-30545018	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
35	nsv1051897	chr15:30386399-30596631	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
36	nsv1044014	chr15:30386399-30605841	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
37	nsv1050209	chr15:30386399-30732267	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
38	nsv1035201	chr15:30386399-30734745	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
39	nsv1047974	chr15:30386399-30780651	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	24 gene(s)	inside rSNPs	diseases
40	nsv1048557	chr15:30386399-30807930	Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island lncRNA	25 gene(s)	inside rSNPs	diseases
41	nsv1047669	chr15:30386399-30821746	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island lncRNA	25 gene(s)	inside rSNPs	diseases
42	nsv1052282	chr15:30386399-30900866	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	36 gene(s)	inside rSNPs	diseases
43	nsv1050658	chr15:30386399-30920612	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
44	nsv1035535	chr15:30386399-30925593	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
45	nsv1048881	chr15:30386399-30933522	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
46	nsv1042426	chr15:30386399-30936285	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
47	nsv1039382	chr15:30386399-31080276	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
48	nsv1049639	chr15:30386399-31087321	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
49	nsv1039392	chr15:30386399-31088465	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
50	esv2761732	chr15:30386411-31088477	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

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dbSNP/dbVar ID: rs12345 /nsv7879
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