Variant report

Variant	esv3360562
Chromosome Location	chr15:83315522-83318070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:855)
Chromatin interactive
region (count:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 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	chr15:83316940-83317220	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr15:83316299-83316507	K562	blood:	n/a	n/a
7	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
8	BHLHE40	chr15:83314933-83316809	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
9	BHLHE40	chr15:83316236-83316620	HepG2	liver:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
10	BHLHE40	chr15:83317489-83317499	K562	blood:	n/a	n/a
11	BHLHE40	chr15:83316127-83316639	A549	lung:	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	BRCA1	chr15:83317088-83317301	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr15:83314795-83316810	K562	blood:	n/a	n/a
15	CBX3	chr15:83315656-83316152	K562	blood:	n/a	n/a
16	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
17	CEBPB	chr15:83315883-83315997	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr15:83315866-83316736	K562	blood:	n/a	chr15:83316377-83316384
19	CHD2	chr15:83315607-83315660	K562	blood:	n/a	n/a
20	CHD2	chr15:83317043-83317317	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr15:83316110-83317150	A549	lung:	n/a	n/a
22	CTCF	chr15:83316080-83316230	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr15:83317059-83317240	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:83316140-83316290	HMF	breast:	n/a	n/a
25	CTCF	chr15:83316120-83316270	NHLF	lung:	n/a	n/a
26	CTCF	chr15:83316160-83316310	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr15:83316240-83316390	HVMF	connective:	n/a	n/a
28	CTCF	chr15:83316160-83316310	HMEC	breast:	n/a	n/a
29	CTCF	chr15:83317020-83317170	AG04450	lung:	n/a	n/a
30	CTCF	chr15:83316133-83316306	K562	blood:	n/a	n/a
31	CTCF	chr15:83317140-83317290	BJ	skin:	n/a	n/a
32	CTCF	chr15:83316127-83316238	GM12878	blood:	n/a	n/a
33	CTCF	chr15:83316060-83316210	GM12868	blood:	n/a	n/a
34	CTCF	chr15:83316180-83316330	HCFaa	heart:	n/a	n/a
35	CTCF	chr15:83316256-83316339	Fibrobl	skin:	n/a	n/a
36	CTCF	chr15:83317159-83317279	K562	blood:	n/a	n/a
37	CTCF	chr15:83316078-83316284	Medullo	brain:	n/a	n/a
38	CTCF	chr15:83316139-83316189	GM10266	blood:	n/a	n/a
39	CTCF	chr15:83316108-83316254	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr15:83317120-83317270	AG04450	lung:	n/a	n/a
41	CTCF	chr15:83317080-83317230	HAc	cerebellar:	n/a	n/a
42	CTCF	chr15:83316120-83316270	MCF-7	breast:	n/a	n/a
43	CTCF	chr15:83315940-83316090	A549	lung:	n/a	n/a
44	CTCF	chr15:83316111-83316246	Gliobla	brain:	n/a	n/a
45	CTCF	chr15:83317080-83317230	AG10803	skin:	n/a	n/a
46	CTCF	chr15:83317165-83317216	GM10266	blood:	n/a	n/a
47	CTCF	chr15:83316160-83316310	AG09319	gingival:	n/a	n/a
48	CTCF	chr15:83316080-83316230	GM12878	blood:	n/a	n/a
49	CTCF	chr15:83316200-83316350	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:83317100-83317250	HRE	kidney:	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	chr15:83317526-83317576	GM12891	blood:	n/a
2	chr15:83317526-83317576	GM12891	blood:	n/a
3	chr15:83315615-83315665	GM12878	blood:	n/a
4	chr15:83317632-83317682	RPTEC	kidney:	n/a
5	chr15:83316734-83316784	IMR90	lung:	fetal
6	chr15:83317281-83317331	BE2_C	brain:	n/a
7	chr15:83317306-83317356	IMR90	lung:	fetal
8	chr15:83315627-83315677	Jurkat	blood:	n/a
9	chr15:83316734-83316784	U87	brain:	n/a
10	chr15:83317281-83317331	SK-N-SH_RA	brain:	n/a
11	chr15:83316838-83316888	ECC-1	luminal epithelium:	n/a
12	chr15:83316734-83316784	GM12878	blood:	n/a
13	chr15:83316378-83316428	SAEC	small airway:	n/a
14	chr15:83315922-83315972	GM12891	blood:	n/a
15	chr15:83315627-83315677	AoSMC	blood vessel:	n/a
16	chr15:83316838-83316888	SK-N-SH_RA	brain:	n/a
17	chr15:83316640-83316690	ECC-1	luminal epithelium:	n/a
18	chr15:83315627-83315677	HUVEC	blood vessel:	n/a
19	chr15:83316734-83316784	T-47D	breast:	n/a
20	chr15:83315922-83315972	HEK293	kidney:	embryo
21	chr15:83317306-83317356	PrEC	prostate:	n/a
22	chr15:83316640-83316690	HAEpiC	amniotic membrane:	n/a
23	chr15:83317281-83317331	HMEC	breast:	n/a
24	chr15:83315922-83315972	NB4	blood:	n/a
25	chr15:83316838-83316888	H1-hESC	embryonic stem cell:	embryo
26	chr15:83317526-83317576	HPAEpiC	pulmonary alveolar:	n/a
27	chr15:83315922-83315972	GM12878	blood:	n/a
28	chr15:83315922-83315972	SK-N-SH	brain:	n/a
29	chr15:83316911-83316961	ProgFib	skin:	n/a
30	chr15:83317632-83317682	NHBE	bronchial:	n/a
31	chr15:83316640-83316690	HEEpiC	esophagus:	n/a
32	chr15:83316378-83316428	NH-A	brain:	n/a
33	chr15:83315615-83315665	PFSK-1	brain:	n/a
34	chr15:83317398-83317448	NT2-D1	testis:	n/a
35	chr15:83317281-83317331	HIPEpiC	eye:	n/a
36	chr15:83317632-83317682	HEK293	kidney:	embryo
37	chr15:83317632-83317682	BJ	skin:	n/a
38	chr15:83316734-83316784	SK-N-MC	brain:	n/a
39	chr15:83316640-83316690	HCF	heart:	n/a
40	chr15:83317306-83317356	HEEpiC	esophagus:	n/a
41	chr15:83317398-83317448	GM12891	blood:	n/a
42	chr15:83315627-83315677	LNCaP	prostate:	n/a
43	chr15:83317281-83317331	AoSMC	blood vessel:	n/a
44	chr15:83317632-83317682	HNPCEpiC	eye:	n/a
45	chr15:83316640-83316690	Jurkat	blood:	n/a
46	chr15:83317398-83317448	BE2_C	brain:	n/a
47	chr15:83315627-83315677	HCF	heart:	n/a
48	chr15:83315627-83315677	H1-hESC	embryonic stem cell:	embryo
49	chr15:83317306-83317356	GM19239	blood:	n/a
50	chr15:83317632-83317682	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
2	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
3	chr15:83316099..83317759-chr15:83406962..83409710,2	K562	blood:
4	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
5	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:
6	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
7	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
8	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
9	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
10	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
11	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
12	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
13	chr15:83216717..83218665-chr15:83313410..83315739,2	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	ENSG00000259462.1
2	lnc-RP11-379H8.1.1-1	chr15:83317155-83317559	NONHSAT047842
3	lnc-CPEB1-1	chr15:83317190-83317612	NONHSAT047839
4	lnc-RP11-379H8.1.1-1	chr15:83316521-83317559	ENSG00000244937
5	lnc-AP3B2-2	chr15:83316971-83317129	NONHSAT047840

No data

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

Extended variants
information (count: 114 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	rs587720187	chr15:83315982-83315983	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs587759138	chr15:83316033-83316034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs374362604	chr15:83316058-83316059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs190901744	chr15:83316060-83316061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs587596662	chr15:83316095-83316096	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs587691084	chr15:83316106-83316107	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs587727855	chr15:83316129-83316130	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs587625226	chr15:83316245-83316246	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs587662954	chr15:83316251-83316252	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs114736633	chr15:83316254-83316255	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs587619794	chr15:83316262-83316263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs587687709	chr15:83316317-83316318	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs587669686	chr15:83316327-83316328	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs587736582	chr15:83316335-83316336	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs587632469	chr15:83316337-83316338	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs587691720	chr15:83316350-83316351	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs587770312	chr15:83316360-83316361	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs368371969	chr15:83316366-83316367	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs587616812	chr15:83316371-83316372	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs587702451	chr15:83316462-83316463	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs371834122	chr15:83316503-83316504	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs587636190	chr15:83316506-83316507	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs182071420	chr15:83316526-83316527	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs587770981	chr15:83316539-83316540	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
42	rs587671165	chr15:83316545-83316546	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs372164501	chr15:83316612-83316613	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs587727767	chr15:83316627-83316628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs587625528	chr15:83316633-83316634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs587657369	chr15:83316661-83316662	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs587720811	chr15:83316674-83316675	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs587598496	chr15:83316753-83316754	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs587677946	chr15:83316756-83316757	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs587736783	chr15:83316767-83316768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:83315000-83315600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr15:83315000-83315600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:83315000-83315600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr15:83315000-83315600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
15	chr15:83315000-83315600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr15:83315000-83315600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:83315000-83315600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:83315000-83315600	Bivalent Enhancer	Esophagus	oesophagus
19	chr15:83315000-83315600	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr15:83315000-83315600	Enhancers	Lung	lung
21	chr15:83315000-83315600	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr15:83315000-83315800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:83315000-83315800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:83315000-83315800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:83315000-83315800	Bivalent Enhancer	HMEC	breast
26	chr15:83315000-83316000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
28	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr15:83315000-83316000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr15:83315000-83316200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr15:83315000-83316200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr15:83315000-83316200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:83315000-83316200	Flanking Active TSS	Pancreas	Pancrea
36	chr15:83315000-83316400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:83315000-83317200	Active TSS	Brain Substantia Nigra	brain
38	chr15:83315000-83317200	Active TSS	Right Atrium	heart
39	chr15:83315000-83317200	Bivalent/Poised TSS	NHLF	lung
40	chr15:83315000-83317400	Active TSS	Brain Angular Gyrus	brain
41	chr15:83315000-83317400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr15:83315000-83317400	Bivalent Enhancer	Placenta	Placenta
43	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:83315200-83315600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr15:83315200-83315600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr15:83315200-83315600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:83315200-83315600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:83315200-83315600	Bivalent Enhancer	Fetal Heart	heart
49	chr15:83315200-83315600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
50	chr15:83315200-83315800	Bivalent Enhancer	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links