Variant report

Variant	esv3334366
Chromosome Location	chr15:79102897-79105495
allele	n/a
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	BACH1	chr15:79103045-79103184	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr15:79103849-79104167	K562	blood:	n/a	n/a
3	CCNT2	chr15:79104434-79104634	K562	blood:	n/a	chr15:79104501-79104510
4	CHD1	chr15:79103672-79103754	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr15:79103198-79103398	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr15:79102556-79103831	IMR90	lung:	n/a	n/a
7	CREB1	chr15:79102638-79103091	A549	lung:	n/a	n/a
8	CREB1	chr15:79103875-79104119	A549	lung:	n/a	n/a
9	CTCF	chr15:79103980-79104130	NB4	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
10	CTCF	chr15:79103980-79104130	AG10803	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
11	CTCF	chr15:79103849-79104268	A549	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
12	CTCF	chr15:79103901-79104145	H1-hESC	embryonic stem cell:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
13	CTCF	chr15:79103960-79104110	GM12865	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
14	CTCF	chr15:79103911-79104171	A549	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
15	CTCF	chr15:79103944-79104136	GM13976	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
16	CTCF	chr15:79103980-79104130	Caco-2	colon:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
17	CTCF	chr15:79103980-79104130	AG09319	gingival:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
18	CTCF	chr15:79103880-79104331	GM12891	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
19	CTCF	chr15:79103891-79104146	ECC-1	luminal epithelium:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
20	CTCF	chr15:79103727-79104258	MCF-7	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
21	CTCF	chr15:79103900-79104050	HVMF	connective:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
22	CTCF	chr15:79103980-79104130	GM12872	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
23	CTCF	chr15:79104000-79104150	HBMEC	blood vessel:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
24	CTCF	chr15:79103960-79104110	HAc	cerebellar:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
25	CTCF	chr15:79103940-79104090	A549	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
26	CTCF	chr15:79104020-79104170	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr15:79103980-79104130	AG09309	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
28	CTCF	chr15:79103887-79104149	Hela-S3	cervix:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
29	CTCF	chr15:79103980-79104130	HRE	kidney:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
30	CTCF	chr15:79104000-79104150	GM12872	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
31	CTCF	chr15:79103893-79104126	SK-N-SH_RA	brain:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
32	CTCF	chr15:79102840-79102990	AG09319	gingival:	n/a	chr15:79102942-79102951 chr15:79102942-79102955
33	CTCF	chr15:79104000-79104150	HEK293	kidney:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
34	CTCF	chr15:79103980-79104130	GM12873	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
35	CTCF	chr15:79104000-79104150	HEEpiC	esophagus:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
36	CTCF	chr15:79103980-79104130	HEK293	kidney:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
37	CTCF	chr15:79103940-79104090	NHEK	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
38	CTCF	chr15:79104000-79104150	HMF	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
39	CTCF	chr15:79103875-79104153	A549	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
40	CTCF	chr15:79103898-79104181	MCF-7	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
41	CTCF	chr15:79103930-79104176	Pancreas_OC	pancreas:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
42	CTCF	chr15:79102840-79102990	AG04449	skin:	n/a	chr15:79102942-79102951 chr15:79102942-79102955
43	CTCF	chr15:79103876-79104150	MCF-7	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
44	CTCF	chr15:79103980-79104130	K562	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
45	CTCF	chr15:79103980-79104130	HRPEpiC	eye:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
46	CTCF	chr15:79103960-79104110	WERI-Rb-1	eye:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
47	CTCF	chr15:79103862-79104428	K562	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
48	CTCF	chr15:79104000-79104150	HCM	heart:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
49	CTCF	chr15:79103931-79104198	GM20000	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
50	CTCF	chr15:79103923-79104185	Spleen_OC	spleen:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79104124-79104174	HRPEpiC	eye:	n/a
2	chr15:79105018-79105068	HNPCEpiC	eye:	n/a
3	chr15:79103718-79103768	A549	lung:	n/a
4	chr15:79104232-79104282	Jurkat	blood:	n/a
5	chr15:79103221-79103271	GM19239	blood:	n/a
6	chr15:79104124-79104174	RPTEC	kidney:	n/a
7	chr15:79103718-79103768	HCM	heart:	n/a
8	chr15:79103221-79103271	HCM	heart:	n/a
9	chr15:79103025-79103075	NHDF-neo	bronchial:	n/a
10	chr15:79105018-79105068	GM12878	blood:	n/a
11	chr15:79104232-79104282	AG04450	lung:	fetal
12	chr15:79103025-79103075	AG04450	lung:	fetal
13	chr15:79104232-79104282	IMR90	lung:	fetal
14	chr15:79103201-79103251	CMK	blood:	n/a
15	chr15:79104232-79104282	NT2-D1	testis:	n/a
16	chr15:79103201-79103251	NHDF-neo	bronchial:	n/a
17	chr15:79105018-79105068	GM12891	blood:	n/a
18	chr15:79103221-79103271	HRCEpiC	kidney:	n/a
19	chr15:79103718-79103768	HepG2	liver:	n/a
20	chr15:79103753-79103803	GM12892	blood:	n/a
21	chr15:79103025-79103075	A549	lung:	n/a
22	chr15:79103201-79103251	AG09309	skin:	n/a
23	chr15:79103201-79103251	GM06990	blood:	n/a
24	chr15:79103025-79103075	IMR90	lung:	fetal
25	chr15:79104481-79104531	SK-N-MC	brain:	n/a
26	chr15:79103221-79103271	SK-N-SH_RA	brain:	n/a
27	chr15:79104232-79104282	ECC-1	luminal epithelium:	n/a
28	chr15:79103025-79103075	SK-N-SH	brain:	n/a
29	chr15:79105018-79105068	SK-N-SH	brain:	n/a
30	chr15:79103718-79103768	HRCEpiC	kidney:	n/a
31	chr15:79103221-79103271	AG09309	skin:	n/a
32	chr15:79105018-79105068	AG10803	skin:	n/a
33	chr15:79103221-79103271	NT2-D1	testis:	n/a
34	chr15:79103201-79103251	H1-hESC	embryonic stem cell:	embryo
35	chr15:79103201-79103251	GM19239	blood:	n/a
36	chr15:79103201-79103251	SK-N-SH	brain:	n/a
37	chr15:79104124-79104174	HCPEpiC	choroid plexus:	n/a
38	chr15:79104124-79104174	NT2-D1	testis:	n/a
39	chr15:79105018-79105068	SK-N-SH_RA	brain:	n/a
40	chr15:79105018-79105068	ProgFib	skin:	n/a
41	chr15:79103201-79103251	SK-N-SH_RA	brain:	n/a
42	chr15:79103753-79103803	AG04450	lung:	fetal
43	chr15:79103025-79103075	ovcar-3	ovarian:	n/a
44	chr15:79103007-79103057	AG10803	skin:	n/a
45	chr15:79103007-79103057	SKMC	muscle:	n/a
46	chr15:79103221-79103271	NB4	blood:	n/a
47	chr15:79103201-79103251	BE2_C	brain:	n/a
48	chr15:79104481-79104531	HNPCEpiC	eye:	n/a
49	chr15:79104232-79104282	MCF10A-Er-Src	breast:	n/a
50	chr15:79103201-79103251	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79105202..79107134-chrX:78755858..78757584,2	MCF-7	breast:
2	chr15:79105247..79107755-chr15:79157087..79159923,2	MCF-7	breast:
3	chr15:79102834..79106085-chr15:79164025..79165931,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTS7	TF binding region
ADAMTS7	CpG island
ENSG00000185787	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572032741	chr15:79102916-79102917	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540940961	chr15:79102918-79102919	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555995112	chr15:79102938-79102939	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574177581	chr15:79102939-79102940	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61393924	chr15:79102980-79102981	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192012624	chr15:79102989-79102990	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550991408	chr15:79102997-79102998	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560123488	chr15:79103114-79103115	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184787580	chr15:79103132-79103133	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548895079	chr15:79103137-79103138	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141039960	chr15:79103200-79103201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145858796	chr15:79103247-79103248	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531448111	chr15:79103276-79103277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549946886	chr15:79103408-79103409	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571310161	chr15:79103421-79103422	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375248351	chr15:79103552-79103553	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538751112	chr15:79103599-79103600	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553870933	chr15:79103686-79103687	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189835789	chr15:79103701-79103702	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536229979	chr15:79103729-79103730	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555819023	chr15:79103770-79103771	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574263898	chr15:79103819-79103820	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538100949	chr15:79104068-79104069	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573169966	chr15:79104120-79104121	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114768838	chr15:79104164-79104165	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545574457	chr15:79104206-79104207	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545120061	chr15:79104268-79104269	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376382197	chr15:79104346-79104347	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560193340	chr15:79104355-79104356	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192489046	chr15:79104364-79104365	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542999913	chr15:79104367-79104368	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs117407330	chr15:79104437-79104438	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184409077	chr15:79104443-79104444	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189443382	chr15:79104533-79104534	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114252691	chr15:79104534-79104535	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532315351	chr15:79104591-79104592	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs547541037	chr15:79104595-79104596	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62014860	chr15:79104601-79104602	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536292712	chr15:79104616-79104617	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181957889	chr15:79104617-79104618	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188455443	chr15:79104624-79104625	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145668591	chr15:79104628-79104629	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186129860	chr15:79104702-79104703	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556545340	chr15:79104707-79104708	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577844447	chr15:79104722-79104723	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538832156	chr15:79104724-79104725	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35969124	chr15:79104793-79104794	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572205942	chr15:79104818-79104819	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542710071	chr15:79104864-79104865	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs58676916	chr15:79104915-79104916	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79101400-79104200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:79101800-79103000	Enhancers	Fetal Brain Male	brain
3	chr15:79101800-79103400	Active TSS	Fetal Brain Female	brain
4	chr15:79101800-79104200	Active TSS	Right Atrium	heart
5	chr15:79101800-79104400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:79102000-79103000	Enhancers	Fetal Heart	heart
7	chr15:79102000-79104200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:79102000-79104200	Active TSS	HSMMtube	muscle
9	chr15:79102200-79103600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr15:79102200-79104000	Active TSS	NH-A	brain
11	chr15:79102200-79104200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:79102200-79104200	Active TSS	Left Ventricle	heart
13	chr15:79102200-79104200	Active TSS	Osteobl	bone
14	chr15:79102400-79103000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:79102400-79103000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:79102400-79103000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr15:79102400-79103200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:79102400-79103200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:79102400-79103200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:79102400-79103200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:79102400-79103200	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr15:79102400-79103400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:79102400-79103400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr15:79102400-79103600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:79102400-79103600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr15:79102400-79103600	Bivalent/Poised TSS	A549	lung
27	chr15:79102400-79104000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr15:79102400-79104000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr15:79102400-79104200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:79102400-79104200	Active TSS	Fetal Kidney	kidney
31	chr15:79102400-79104200	Active TSS	Right Ventricle	heart
32	chr15:79102400-79104200	Active TSS	HSMM	muscle
33	chr15:79102400-79104200	Active TSS	NHDF-Ad	bronchial
34	chr15:79102400-79104400	Active TSS	Aorta	Aorta
35	chr15:79102400-79104600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:79102600-79103000	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr15:79102600-79103000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr15:79102600-79103000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
39	chr15:79102600-79103000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:79102600-79103000	Bivalent Enhancer	Placenta	Placenta
41	chr15:79102600-79103000	Active TSS	Fetal Stomach	stomach
42	chr15:79102600-79103200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr15:79102600-79103200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr15:79102600-79103400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:79102600-79103400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:79102600-79103400	Bivalent/Poised TSS	NHLF	lung
47	chr15:79102600-79103600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:79102600-79103600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr15:79102600-79103800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:79102600-79103800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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