Variant report

Variant	esv3400837
Chromosome Location	chr4:3293379-3295927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:306)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:3293525-3293690	HepG2	liver:	n/a	n/a
2	BACH1	chr4:3293851-3294599	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr4:3293310-3294186	HepG2	liver:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
4	BHLHE40	chr4:3293893-3294609	K562	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
5	BHLHE40	chr4:3293912-3294112	GM12878	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
6	BHLHE40	chr4:3294320-3294520	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:3295622-3295699	K562	blood:	n/a	n/a
8	BHLHE40	chr4:3294399-3294612	HepG2	liver:	n/a	n/a
9	BRCA1	chr4:3294300-3294363	HepG2	liver:	n/a	n/a
10	BRCA1	chr4:3295798-3295907	GM12878	blood:	n/a	n/a
11	BRCA1	chr4:3294288-3294477	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr4:3294295-3294586	K562	blood:	n/a	n/a
13	CCNT2	chr4:3294235-3295326	K562	blood:	n/a	n/a
14	CEBPD	chr4:3294628-3295006	HepG2	liver:	n/a	n/a
15	CEBPD	chr4:3294159-3294517	HepG2	liver:	n/a	n/a
16	CHD1	chr4:3294231-3294395	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr4:3294235-3294626	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr4:3294339-3294459	K562	blood:	n/a	n/a
19	CHD2	chr4:3294307-3294604	GM12878	blood:	n/a	n/a
20	CHD2	chr4:3293475-3293521	HepG2	liver:	n/a	n/a
21	CHD2	chr4:3294196-3294605	HepG2	liver:	n/a	n/a
22	CHD2	chr4:3294284-3294796	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr4:3293236-3294971	HepG2	liver:	n/a	n/a
24	CREB1	chr4:3294275-3294746	A549	lung:	n/a	n/a
25	CREB1	chr4:3294148-3294804	GM12878	blood:	n/a	n/a
26	CREB1	chr4:3294300-3294737	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr4:3293420-3293570	HMEC	breast:	n/a	n/a
28	CTCF	chr4:3293545-3293610	LNCaP	prostate:	n/a	n/a
29	CTCF	chr4:3295920-3296070	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr4:3293620-3293770	HEEpiC	esophagus:	n/a	chr4:3293680-3293688 chr4:3293706-3293716
31	CTCF	chr4:3295440-3295590	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr4:3295496-3295628	GM12878	blood:	n/a	n/a
33	CTCF	chr4:3294360-3294510	HMEC	breast:	n/a	n/a
34	CTCF	chr4:3294461-3294472	GM12892	blood:	n/a	n/a
35	CTCF	chr4:3294284-3294473	K562	blood:	n/a	chr4:3294348-3294361
36	CTCF	chr4:3294503-3294564	Lung_OC	lung:	n/a	n/a
37	CTCF	chr4:3294380-3294530	HCM	heart:	n/a	n/a
38	CTCF	chr4:3294460-3294500	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:3293420-3293570	SAEC	small airway:	n/a	n/a
40	CTCF	chr4:3294380-3294425	GM12891	blood:	n/a	n/a
41	CTCF	chr4:3294360-3294510	Caco-2	colon:	n/a	n/a
42	CTCF	chr4:3294360-3294510	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr4:3294427-3294539	NHEK	skin:	n/a	n/a
44	CTCF	chr4:3294428-3294584	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr4:3293400-3293550	HMEC	breast:	n/a	n/a
46	CTCF	chr4:3294300-3294450	AG04449	skin:	n/a	chr4:3294348-3294361
47	CTCF	chr4:3293540-3293690	MCF-7	breast:	n/a	chr4:3293680-3293688
48	CTCF	chr4:3294424-3294545	GM19239	blood:	n/a	n/a
49	CTCF	chr4:3293840-3293990	AG09309	skin:	n/a	n/a
50	CTCF	chr4:3293516-3293538	MCF-7	breast:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3295736-3295786	BJ	skin:	n/a
2	chr4:3295736-3295786	BJ	skin:	n/a
3	chr4:3294400-3294450	HNPCEpiC	eye:	n/a
4	chr4:3294241-3294291	GM12892	blood:	n/a
5	chr4:3294592-3294642	MCF10A-Er-Src	breast:	n/a
6	chr4:3294592-3294642	PANC-1	pancreas:	n/a
7	chr4:3294241-3294291	IMR90	lung:	fetal
8	chr4:3294592-3294642	AG04450	lung:	fetal
9	chr4:3294400-3294450	Caco-2	colon:	n/a
10	chr4:3295736-3295786	NHBE	bronchial:	n/a
11	chr4:3293715-3293765	GM12892	blood:	n/a
12	chr4:3294592-3294642	Jurkat	blood:	n/a
13	chr4:3294592-3294642	A549	lung:	n/a
14	chr4:3294400-3294450	AG10803	skin:	n/a
15	chr4:3293715-3293765	RPTEC	kidney:	n/a
16	chr4:3293715-3293765	LNCaP	prostate:	n/a
17	chr4:3294400-3294450	Hepatocyte	liver:	n/a
18	chr4:3294592-3294642	GM12891	blood:	n/a
19	chr4:3295736-3295786	HNPCEpiC	eye:	n/a
20	chr4:3295736-3295786	NH-A	brain:	n/a
21	chr4:3294241-3294291	NHDF-neo	bronchial:	n/a
22	chr4:3295736-3295786	H1-hESC	embryonic stem cell:	embryo
23	chr4:3294400-3294450	GM12878	blood:	n/a
24	chr4:3294241-3294291	HMEC	breast:	n/a
25	chr4:3295736-3295786	HUVEC	blood vessel:	n/a
26	chr4:3294592-3294642	HRPEpiC	eye:	n/a
27	chr4:3293715-3293765	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:3293715-3293765	BJ	skin:	n/a
29	chr4:3294241-3294291	HCF	heart:	n/a
30	chr4:3294400-3294450	ovcar-3	ovarian:	n/a
31	chr4:3293715-3293765	NB4	blood:	n/a
32	chr4:3295736-3295786	LNCaP	prostate:	n/a
33	chr4:3294592-3294642	NHDF-neo	bronchial:	n/a
34	chr4:3294400-3294450	Jurkat	blood:	n/a
35	chr4:3293715-3293765	ECC-1	luminal epithelium:	n/a
36	chr4:3294241-3294291	HCT-116	colon:	n/a
37	chr4:3294400-3294450	MCF10A-Er-Src	breast:	n/a
38	chr4:3294592-3294642	AG04449	skin:	fetal
39	chr4:3294241-3294291	MCF10A-Er-Src	breast:	n/a
40	chr4:3294592-3294642	GM12878	blood:	n/a
41	chr4:3293715-3293765	AG10803	skin:	n/a
42	chr4:3294400-3294450	SKMC	muscle:	n/a
43	chr4:3294241-3294291	PANC-1	pancreas:	n/a
44	chr4:3294241-3294291	AG04449	skin:	fetal
45	chr4:3294400-3294450	H1-hESC	embryonic stem cell:	embryo
46	chr4:3294400-3294450	AG04449	skin:	fetal
47	chr4:3294241-3294291	HRPEpiC	eye:	n/a
48	chr4:3293715-3293765	HAEpiC	amniotic membrane:	n/a
49	chr4:3294400-3294450	PrEC	prostate:	n/a
50	chr4:3294241-3294291	GM06990	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3074885..3077461-chr4:3292207..3294882,2	MCF-7	breast:
2	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
3	chr4:3292102..3294475-chr4:3451973..3453863,2	MCF-7	breast:
4	chr4:2798786..2800390-chr4:3294087..3295620,2	MCF-7	breast:
5	chr4:3269278..3270856-chr4:3292386..3294072,2	MCF-7	breast:
6	chr4:3233193..3236137-chr4:3292325..3293850,2	MCF-7	breast:
7	chr4:3249484..3252398-chr4:3294414..3296079,2	K562	blood:
8	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:
9	chr4:3283519..3286259-chr4:3292639..3294370,2	K562	blood:
10	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
11	chr4:3284056..3285844-chr4:3292232..3294141,2	MCF-7	breast:
12	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
13	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
14	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
15	chr4:3293485..3295010-chr4:3317459..3319780,2	K562	blood:

No data

Variant related genes	Relation type
RGS12	TF binding region
RGS12	CpG island
ENSG00000159788	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions
ENSG00000188981	chromatin interactions
ENSG00000087266	chromatin interactions
ENSG00000175920	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560496119	chr4:3293399-3293400	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs571986575	chr4:3293415-3293416	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs528362150	chr4:3293416-3293417	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534370936	chr4:3293426-3293427	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs561062840	chr4:3293459-3293460	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs557827546	chr4:3293491-3293492	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs546925807	chr4:3293518-3293519	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs555379100	chr4:3293525-3293526	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs561818977	chr4:3293561-3293562	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs577330343	chr4:3293562-3293563	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs13118873	chr4:3293604-3293605	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187561138	chr4:3293632-3293633	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs115778476	chr4:3293654-3293655	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs543281478	chr4:3293658-3293659	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs34266618	chr4:3293714-3293715	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs559838827	chr4:3293715-3293716	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs528476712	chr4:3293777-3293778	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs370902757	chr4:3293803-3293804	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs59898919	chr4:3293938-3293939	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs60551364	chr4:3293952-3293953	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531046740	chr4:3293965-3293966	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs549969699	chr4:3293973-3293974	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374711846	chr4:3293998-3293999	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs200776150	chr4:3294000-3294001	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs386670670	chr4:3294001-3294002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569850502	chr4:3294002-3294003	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs535676117	chr4:3294006-3294007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs549257784	chr4:3294008-3294009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs559484972	chr4:3294021-3294022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs565878419	chr4:3294087-3294088	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs534574205	chr4:3294193-3294194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs557474224	chr4:3294317-3294318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs35550968	chr4:3294325-3294326	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6815329	chr4:3294370-3294371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs556663988	chr4:3294371-3294372	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs73077111	chr4:3294382-3294383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542892151	chr4:3294447-3294448	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs185091625	chr4:3294454-3294455	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs573459709	chr4:3294459-3294460	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs73077112	chr4:3294465-3294466	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565297567	chr4:3294496-3294497	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs530962932	chr4:3294578-3294579	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs567888889	chr4:3294678-3294679	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs544696023	chr4:3294760-3294761	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs189988058	chr4:3294932-3294933	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532215407	chr4:3295031-3295032	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139468582	chr4:3295179-3295180	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs34020206	chr4:3295184-3295185	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs114424534	chr4:3295195-3295196	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs548916830	chr4:3295231-3295232	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3291800-3293400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr4:3292200-3293400	Enhancers	Lung	lung
3	chr4:3292200-3293400	Enhancers	Psoas Muscle	Psoas
4	chr4:3292400-3293400	Enhancers	Esophagus	oesophagus
5	chr4:3292400-3293400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr4:3292400-3293400	Enhancers	Right Atrium	heart
7	chr4:3292600-3293400	Enhancers	Fetal Stomach	stomach
8	chr4:3292600-3293400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:3292600-3293400	Enhancers	Spleen	Spleen
10	chr4:3292600-3294000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr4:3292600-3294400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:3292800-3293400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:3292800-3293400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr4:3292800-3293400	Enhancers	Fetal Heart	heart
16	chr4:3292800-3293400	Enhancers	Placenta	Placenta
17	chr4:3292800-3293400	Enhancers	Gastric	stomach
18	chr4:3292800-3293800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr4:3292800-3294000	Enhancers	Fetal Brain Male	brain
20	chr4:3293000-3293400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:3293000-3293600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:3293000-3293600	Flanking Active TSS	HepG2	liver
23	chr4:3293000-3293800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:3293000-3293800	Weak transcription	Small Intestine	intestine
25	chr4:3293000-3294000	Flanking Active TSS	Right Ventricle	heart
26	chr4:3293000-3294200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:3293200-3293400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr4:3293200-3293400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:3293200-3293400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:3293200-3293400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:3293200-3293400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr4:3293200-3293400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:3293200-3293400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:3293200-3293400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:3293200-3293400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr4:3293200-3293400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:3293200-3293400	Enhancers	Primary T cells from cord blood	blood
39	chr4:3293200-3293400	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:3293200-3293400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr4:3293200-3293400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:3293200-3293400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:3293200-3293400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:3293200-3293400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:3293200-3293400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:3293200-3293400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:3293200-3293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:3293200-3293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:3293200-3293400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:3293200-3293400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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