Variant report

Variant	esv33057
Chromosome Location	chr15:83314833-83317588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:394)
CpG islands
(count:855)
Chromatin interactive
region (count:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:394 , 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	chr15:83316360-83316560	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr15:83315444-83315541	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:83315055-83315175	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr15:83316299-83316507	K562	blood:	n/a	n/a
7	BACH1	chr15:83316940-83317220	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	chr15:83316271-83316623	GM12878	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	chr15:83314933-83316809	K562	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	chr15:83315656-83316152	K562	blood:	n/a	n/a
16	CBX3	chr15:83314795-83316810	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	chr15:83315866-83316736	K562	blood:	n/a	chr15:83316377-83316384
21	CHD2	chr15:83315607-83315660	K562	blood:	n/a	n/a
22	CHD2	chr15:83317043-83317317	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr15:83315104-83315365	K562	blood:	n/a	chr15:83315209-83315219 chr15:83315200-83315210
24	CREB1	chr15:83316110-83317150	A549	lung:	n/a	n/a
25	CTCF	chr15:83317479-83317535	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr15:83316120-83316270	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr15:83316094-83316220	GM19238	blood:	n/a	n/a
28	CTCF	chr15:83316180-83316330	GM12875	blood:	n/a	n/a
29	CTCF	chr15:83317159-83317279	K562	blood:	n/a	n/a
30	CTCF	chr15:83317080-83317230	HAc	cerebellar:	n/a	n/a
31	CTCF	chr15:83316160-83316292	MCF-7	breast:	n/a	n/a
32	CTCF	chr15:83316160-83316310	GM12874	blood:	n/a	n/a
33	CTCF	chr15:83316120-83316270	RPTEC	kidney:	n/a	n/a
34	CTCF	chr15:83317080-83317230	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr15:83316080-83316230	GM06990	blood:	n/a	n/a
36	CTCF	chr15:83316160-83316310	AG09319	gingival:	n/a	n/a
37	CTCF	chr15:83316140-83316290	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr15:83316140-83316290	GM06990	blood:	n/a	n/a
39	CTCF	chr15:83316053-83316347	K562	blood:	n/a	n/a
40	CTCF	chr15:83316160-83316310	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr15:83316200-83316350	SAEC	small airway:	n/a	n/a
42	CTCF	chr15:83315900-83316050	NHLF	lung:	n/a	n/a
43	CTCF	chr15:83316200-83316350	MCF-7	breast:	n/a	n/a
44	CTCF	chr15:83316160-83316310	A549	lung:	n/a	n/a
45	CTCF	chr15:83317140-83317290	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr15:83317140-83317290	HFF	foreskin:	n/a	n/a
47	CTCF	chr15:83316080-83316230	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr15:83316081-83316469	IMR90	lung:	n/a	n/a
49	CTCF	chr15:83317100-83317250	AG04449	skin:	n/a	n/a
50	CTCF	chr15:83317080-83317230	AG10803	skin:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83316223-83316273	HL-60	blood:	n/a
2	chr15:83316223-83316273	HL-60	blood:	n/a
3	chr15:83317281-83317331	HPAEpiC	pulmonary alveolar:	n/a
4	chr15:83316378-83316428	HMEC	breast:	n/a
5	chr15:83314985-83315035	PrEC	prostate:	n/a
6	chr15:83316640-83316690	BE2_C	brain:	n/a
7	chr15:83315615-83315665	HepG2	liver:	n/a
8	chr15:83317398-83317448	MCF-7	breast:	n/a
9	chr15:83317281-83317331	HepG2	liver:	n/a
10	chr15:83316223-83316273	SK-N-SH_RA	brain:	n/a
11	chr15:83317281-83317331	BE2_C	brain:	n/a
12	chr15:83315627-83315677	SK-N-SH_RA	brain:	n/a
13	chr15:83316911-83316961	HUVEC	blood vessel:	n/a
14	chr15:83316378-83316428	Caco-2	colon:	n/a
15	chr15:83317281-83317331	K562	blood:	n/a
16	chr15:83316838-83316888	A549	lung:	n/a
17	chr15:83317526-83317576	Caco-2	colon:	n/a
18	chr15:83317526-83317576	AG04450	lung:	fetal
19	chr15:83314985-83315035	NHBE	bronchial:	n/a
20	chr15:83317398-83317448	GM06990	blood:	n/a
21	chr15:83316378-83316428	ovcar-3	ovarian:	n/a
22	chr15:83317306-83317356	ProgFib	skin:	n/a
23	chr15:83316378-83316428	H1-hESC	embryonic stem cell:	embryo
24	chr15:83316838-83316888	HepG2	liver:	n/a
25	chr15:83316911-83316961	HMEC	breast:	n/a
26	chr15:83317306-83317356	HepG2	liver:	n/a
27	chr15:83315627-83315677	GM06990	blood:	n/a
28	chr15:83315627-83315677	HUVEC	blood vessel:	n/a
29	chr15:83317306-83317356	HPAEpiC	pulmonary alveolar:	n/a
30	chr15:83316640-83316690	HIPEpiC	eye:	n/a
31	chr15:83315627-83315677	HCF	heart:	n/a
32	chr15:83317526-83317576	Jurkat	blood:	n/a
33	chr15:83317306-83317356	LNCaP	prostate:	n/a
34	chr15:83316378-83316428	HRCEpiC	kidney:	n/a
35	chr15:83317526-83317576	HepG2	liver:	n/a
36	chr15:83316734-83316784	LNCaP	prostate:	n/a
37	chr15:83317398-83317448	PANC-1	pancreas:	n/a
38	chr15:83317306-83317356	MCF10A-Er-Src	breast:	n/a
39	chr15:83315627-83315677	HRE	kidney:	n/a
40	chr15:83317526-83317576	MCF10A-Er-Src	breast:	n/a
41	chr15:83316378-83316428	HRE	kidney:	n/a
42	chr15:83317526-83317576	GM12891	blood:	n/a
43	chr15:83315615-83315665	HRCEpiC	kidney:	n/a
44	chr15:83316223-83316273	H1-hESC	embryonic stem cell:	embryo
45	chr15:83316734-83316784	AG04449	skin:	fetal
46	chr15:83316223-83316273	AG04450	lung:	fetal
47	chr15:83317398-83317448	ECC-1	luminal epithelium:	n/a
48	chr15:83316378-83316428	NHDF-neo	bronchial:	n/a
49	chr15:83317398-83317448	SK-N-SH_RA	brain:	n/a
50	chr15:83316378-83316428	MCF10A-Er-Src	breast:	n/a

(count:13 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 123 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	rs376184047	chr15:83315586-83315587	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
38	rs587690773	chr15:83315590-83315591	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
39	rs182066322	chr15:83315621-83315622	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs186446389	chr15:83315652-83315653	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs587679215	chr15:83315707-83315708	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
42	rs139813060	chr15:83315728-83315729	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	rs11635624	chr15:83315731-83315732	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
44	rs368192893	chr15:83315744-83315745	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	rs587696427	chr15:83315747-83315748	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	rs369334436	chr15:83315753-83315754	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
47	rs142645820	chr15:83315768-83315769	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	rs150986573	chr15:83315791-83315792	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
49	rs587770416	chr15:83315806-83315807	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs57217657	chr15:83315860-83315861	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83306400-83315000	Weak transcription	Pancreas	Pancrea
2	chr15:83313400-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:83313800-83315000	Weak transcription	Brain Angular Gyrus	brain
4	chr15:83313800-83315000	Weak transcription	Brain Substantia Nigra	brain
5	chr15:83314000-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:83314000-83315400	Active TSS	K562	blood
7	chr15:83314800-83315000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr15:83314800-83315000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr15:83314800-83315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:83314800-83315000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:83314800-83315000	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr15:83314800-83315000	Bivalent Enhancer	Colon Smooth Muscle	Colon
13	chr15:83314800-83315000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr15:83314800-83315000	Bivalent/Poised TSS	Right Ventricle	heart
15	chr15:83314800-83315000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr15:83314800-83315000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr15:83314800-83315200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr15:83314800-83315200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr15:83314800-83315200	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:83314800-83315400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:83314800-83315400	Active TSS	Brain Anterior Caudate	brain
24	chr15:83314800-83315400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr15:83315000-83315200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:83315000-83315200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:83315000-83315200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:83315000-83315200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:83315000-83315200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
41	chr15:83315000-83315200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:83315000-83315200	Enhancers	Ovary	ovary
43	chr15:83315000-83315200	Bivalent Enhancer	Psoas Muscle	Psoas
44	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr15:83315000-83315200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr15:83315000-83315400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:83315000-83315400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr15:83315000-83315400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links