Variant report

Variant	esv3434026
Chromosome Location	chr15:83314547-83318195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:915)
Chromatin interactive
region (count:14)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:83316181-83316371	K562	blood:	n/a	n/a
2	ATF3	chr15:83316247-83316595	K562	blood:	n/a	chr15:83316499-83316508 chr15:83316463-83316483
3	BACH1	chr15:83315444-83315541	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:83316360-83316560	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:83316299-83316507	K562	blood:	n/a	n/a
6	BACH1	chr15:83316940-83317220	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr15:83315055-83315175	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr15:83315909-83316668	K562	blood:	n/a	chr15:83316212-83316225 chr15:83316358-83316371 chr15:83316362-83316375 chr15:83316366-83316379 chr15:83316500-83316509 chr15:83316349-83316362
9	BHLHE40	chr15:83316127-83316639	A549	lung:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
10	BHLHE40	chr15:83314933-83316809	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
11	BHLHE40	chr15:83316236-83316620	HepG2	liver:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
12	BHLHE40	chr15:83316271-83316623	GM12878	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
13	BHLHE40	chr15:83317489-83317499	K562	blood:	n/a	n/a
14	BRCA1	chr15:83317088-83317301	H1-hESC	embryonic stem cell:	n/a	n/a
15	CBX3	chr15:83314795-83316810	K562	blood:	n/a	n/a
16	CBX3	chr15:83315656-83316152	K562	blood:	n/a	n/a
17	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
18	CEBPB	chr15:83315883-83315997	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr15:83315365-83315366	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr15:83317043-83317317	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr15:83315104-83315365	K562	blood:	n/a	chr15:83315209-83315219 chr15:83315200-83315210
22	CHD2	chr15:83315607-83315660	K562	blood:	n/a	n/a
23	CHD2	chr15:83314390-83314759	K562	blood:	n/a	n/a
24	CHD2	chr15:83315866-83316736	K562	blood:	n/a	chr15:83316377-83316384
25	CREB1	chr15:83316110-83317150	A549	lung:	n/a	n/a
26	CTCF	chr15:83316127-83316250	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:83315920-83316070	HFF	foreskin:	n/a	n/a
28	CTCF	chr15:83317120-83317270	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr15:83317140-83317290	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr15:83316032-83316581	K562	blood:	n/a	n/a
31	CTCF	chr15:83317120-83317270	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr15:83316133-83316306	K562	blood:	n/a	n/a
33	CTCF	chr15:83316140-83316290	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr15:83316120-83316270	NHEK	skin:	n/a	n/a
35	CTCF	chr15:83316120-83316270	K562	blood:	n/a	n/a
36	CTCF	chr15:83317120-83317270	AG04450	lung:	n/a	n/a
37	CTCF	chr15:83316160-83316292	MCF-7	breast:	n/a	n/a
38	CTCF	chr15:83316220-83316370	GM12871	blood:	n/a	n/a
39	CTCF	chr15:83317100-83317250	K562	blood:	n/a	n/a
40	CTCF	chr15:83316060-83316210	BE2_C	brain:	n/a	n/a
41	CTCF	chr15:83316160-83316310	HMEC	breast:	n/a	n/a
42	CTCF	chr15:83316127-83316238	GM12878	blood:	n/a	n/a
43	CTCF	chr15:83316180-83316330	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr15:83317140-83317290	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr15:83316180-83316330	HCFaa	heart:	n/a	n/a
46	CTCF	chr15:83316120-83316270	BJ	skin:	n/a	n/a
47	CTCF	chr15:83316120-83316270	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr15:83317100-83317250	HRE	kidney:	n/a	n/a
49	CTCF	chr15:83316160-83316310	GM12865	blood:	n/a	n/a
50	CTCF	chr15:83315940-83316090	A549	lung:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83314985-83315035	PFSK-1	brain:	n/a
2	chr15:83316911-83316961	ECC-1	luminal epithelium:	n/a
3	chr15:83317281-83317331	MCF10A-Er-Src	breast:	n/a
4	chr15:83316223-83316273	GM19239	blood:	n/a
5	chr15:83317306-83317356	T-47D	breast:	n/a
6	chr15:83316223-83316273	Hepatocyte	liver:	n/a
7	chr15:83316223-83316273	NT2-D1	testis:	n/a
8	chr15:83315922-83315972	RPTEC	kidney:	n/a
9	chr15:83316223-83316273	AG09319	gingival:	n/a
10	chr15:83316378-83316428	HNPCEpiC	eye:	n/a
11	chr15:83316838-83316888	HCT-116	colon:	n/a
12	chr15:83317306-83317356	MCF-7	breast:	n/a
13	chr15:83317526-83317576	LNCaP	prostate:	n/a
14	chr15:83316640-83316690	IMR90	lung:	fetal
15	chr15:83315627-83315677	ovcar-3	ovarian:	n/a
16	chr15:83317632-83317682	HPAEpiC	pulmonary alveolar:	n/a
17	chr15:83316378-83316428	PrEC	prostate:	n/a
18	chr15:83316223-83316273	HCM	heart:	n/a
19	chr15:83317281-83317331	AoSMC	blood vessel:	n/a
20	chr15:83315922-83315972	BJ	skin:	n/a
21	chr15:83314985-83315035	BE2_C	brain:	n/a
22	chr15:83315615-83315665	K562	blood:	n/a
23	chr15:83316223-83316273	CMK	blood:	n/a
24	chr15:83317281-83317331	A549	lung:	n/a
25	chr15:83316378-83316428	HRPEpiC	eye:	n/a
26	chr15:83317398-83317448	HRCEpiC	kidney:	n/a
27	chr15:83316838-83316888	SKMC	muscle:	n/a
28	chr15:83317632-83317682	HRPEpiC	eye:	n/a
29	chr15:83316378-83316428	SKMC	muscle:	n/a
30	chr15:83317281-83317331	HCF	heart:	n/a
31	chr15:83317632-83317682	HCT-116	colon:	n/a
32	chr15:83315922-83315972	HCF	heart:	n/a
33	chr15:83316640-83316690	BJ	skin:	n/a
34	chr15:83315615-83315665	HCT-116	colon:	n/a
35	chr15:83316378-83316428	HUVEC	blood vessel:	n/a
36	chr15:83316734-83316784	SK-N-SH	brain:	n/a
37	chr15:83315615-83315665	HepG2	liver:	n/a
38	chr15:83317632-83317682	NT2-D1	testis:	n/a
39	chr15:83316378-83316428	HCF	heart:	n/a
40	chr15:83316378-83316428	AG04449	skin:	fetal
41	chr15:83314985-83315035	A549	lung:	n/a
42	chr15:83316734-83316784	AG10803	skin:	n/a
43	chr15:83317281-83317331	Caco-2	colon:	n/a
44	chr15:83316734-83316784	GM12892	blood:	n/a
45	chr15:83317632-83317682	PANC-1	pancreas:	n/a
46	chr15:83316223-83316273	BJ	skin:	n/a
47	chr15:83316734-83316784	K562	blood:	n/a
48	chr15:83315615-83315665	HIPEpiC	eye:	n/a
49	chr15:83314985-83315035	U87	brain:	n/a
50	chr15:83314985-83315035	GM19239	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
2	chr15:83316099..83317759-chr15:83406962..83409710,2	K562	blood:
3	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
4	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
5	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
6	chr15:83216717..83218665-chr15:83313410..83315739,2	K562	blood:
7	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
8	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
9	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:
10	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
11	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
12	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
13	chr15:83225687..83228641-chr15:83313130..83314679,2	K562	blood:
14	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPEB1-1	chr15:83317190-83317612	NONHSAT047839
2	lnc-RP11-379H8.1.1-1	chr15:83316521-83317559	ENSG00000244937
3	lnc-RP11-379H8.1.1-1	chr15:83317155-83317559	NONHSAT047842
4	lnc-RP11-379H8.1.1-1	chr15:83316521-83317559	ENSG00000259462.1
5	lnc-AP3B2-2	chr15:83316971-83317129	NONHSAT047840

No data

Variant related genes	Relation type
ENSG00000259462	TF binding region
CPEB1	TF binding region
ENSG00000259462	CpG island
CPEB1	CpG island
ENSG00000260608	chromatin interactions
ENSG00000103723	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000259315	chromatin interactions
ENSG00000250988	chromatin interactions
BCKDHB	miRNA target sites

Extended variants
information (count: 165 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs587673524	chr15:83314549-83314550	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs587732776	chr15:83314551-83314552	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs587628640	chr15:83314554-83314555	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs587665341	chr15:83314563-83314564	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs587608917	chr15:83314620-83314621	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs34934987	chr15:83314641-83314642	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs374329049	chr15:83314653-83314654	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs587614472	chr15:83314715-83314716	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs201423877	chr15:83314749-83314750	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs587698631	chr15:83314757-83314758	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs147092341	chr15:83314770-83314771	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs587752887	chr15:83314772-83314773	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs587653832	chr15:83314790-83314791	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs587713168	chr15:83314825-83314826	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs587775982	chr15:83314834-83314835	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs587668856	chr15:83314840-83314841	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs587725416	chr15:83314877-83314878	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs587761573	chr15:83314933-83314934	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs71412266	chr15:83314953-83314954	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587718818	chr15:83315021-83315022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs587595802	chr15:83315093-83315094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs587652958	chr15:83315102-83315103	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs587712098	chr15:83315154-83315155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs587609608	chr15:83315174-83315175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs183838797	chr15:83315176-83315177	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs587667292	chr15:83315190-83315191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs188553935	chr15:83315201-83315202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs368715254	chr15:83315202-83315203	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs587671999	chr15:83315217-83315218	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs147349730	chr15:83315226-83315227	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs587654239	chr15:83315240-83315241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs587715142	chr15:83315249-83315250	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs587748077	chr15:83315262-83315263	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs7166378	chr15:83315288-83315289	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181485937	chr15:83315321-83315322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs186669679	chr15:83315336-83315337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs587640004	chr15:83315337-83315338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs77252216	chr15:83315338-83315339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs587753202	chr15:83315345-83315346	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs587690444	chr15:83315348-83315349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs587654964	chr15:83315388-83315389	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs587710438	chr15:83315413-83315414	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs71455415	chr15:83315430-83315431	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs587611183	chr15:83315436-83315437	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs373274412	chr15:83315470-83315471	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs7166780	chr15:83315477-83315478	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs587599328	chr15:83315508-83315509	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs7161977	chr15:83315533-83315534	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs114600259	chr15:83315565-83315566	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs587594815	chr15:83315567-83315568	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
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
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83306400-83315000	Weak transcription	Pancreas	Pancrea
2	chr15:83312800-83314600	Enhancers	Brain Hippocampus Middle	brain
3	chr15:83313200-83314800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:83313200-83314800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:83313400-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:83313800-83315000	Weak transcription	Brain Angular Gyrus	brain
7	chr15:83313800-83315000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:83314000-83314800	Weak transcription	Brain Anterior Caudate	brain
9	chr15:83314000-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:83314000-83315400	Active TSS	K562	blood
11	chr15:83314200-83314600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:83314600-83314800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:83314600-83314800	Enhancers	Brain Cingulate Gyrus	brain
14	chr15:83314800-83315000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr15:83314800-83315000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr15:83314800-83315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:83314800-83315000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:83314800-83315000	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr15:83314800-83315000	Bivalent Enhancer	Colon Smooth Muscle	Colon
20	chr15:83314800-83315000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:83314800-83315000	Bivalent/Poised TSS	Right Ventricle	heart
22	chr15:83314800-83315000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr15:83314800-83315000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr15:83314800-83315200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr15:83314800-83315200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr15:83314800-83315200	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:83314800-83315400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:83314800-83315400	Active TSS	Brain Anterior Caudate	brain
31	chr15:83314800-83315400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr15:83315000-83315200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:83315000-83315200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:83315000-83315200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:83315000-83315200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:83315000-83315200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
48	chr15:83315000-83315200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr15:83315000-83315200	Enhancers	Ovary	ovary
50	chr15:83315000-83315200	Bivalent Enhancer	Psoas Muscle	Psoas

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