Variant report

Variant	esv3381315
Chromosome Location	chr4:3293754-3296077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:306)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:400 , 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	BACH1	chr4:3293851-3294599	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:3294320-3294520	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:3295622-3295699	K562	blood:	n/a	n/a
4	BHLHE40	chr4:3293912-3294112	GM12878	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
5	BHLHE40	chr4:3293310-3294186	HepG2	liver:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
6	BHLHE40	chr4:3294399-3294612	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:3293893-3294609	K562	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
8	BRCA1	chr4:3294288-3294477	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr4:3295798-3295907	GM12878	blood:	n/a	n/a
10	BRCA1	chr4:3294300-3294363	HepG2	liver:	n/a	n/a
11	CBX3	chr4:3294295-3294586	K562	blood:	n/a	n/a
12	CCNT2	chr4:3294235-3295326	K562	blood:	n/a	n/a
13	CEBPD	chr4:3294628-3295006	HepG2	liver:	n/a	n/a
14	CEBPD	chr4:3294159-3294517	HepG2	liver:	n/a	n/a
15	CHD1	chr4:3294231-3294395	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr4:3294235-3294626	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr4:3294307-3294604	GM12878	blood:	n/a	n/a
18	CHD2	chr4:3294196-3294605	HepG2	liver:	n/a	n/a
19	CHD2	chr4:3294284-3294796	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr4:3294339-3294459	K562	blood:	n/a	n/a
21	CREB1	chr4:3294300-3294737	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr4:3293236-3294971	HepG2	liver:	n/a	n/a
23	CREB1	chr4:3294148-3294804	GM12878	blood:	n/a	n/a
24	CREB1	chr4:3294275-3294746	A549	lung:	n/a	n/a
25	CTCF	chr4:3294461-3294472	GM12892	blood:	n/a	n/a
26	CTCF	chr4:3294360-3294510	Caco-2	colon:	n/a	n/a
27	CTCF	chr4:3294284-3294473	K562	blood:	n/a	chr4:3294348-3294361
28	CTCF	chr4:3294380-3294530	HCM	heart:	n/a	n/a
29	CTCF	chr4:3294428-3294584	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr4:3295440-3295590	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr4:3294475-3294542	GM10266	blood:	n/a	n/a
32	CTCF	chr4:3294450-3294539	GM19240	blood:	n/a	n/a
33	CTCF	chr4:3294380-3294425	GM12891	blood:	n/a	n/a
34	CTCF	chr4:3294360-3294510	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr4:3294424-3294545	GM19239	blood:	n/a	n/a
36	CTCF	chr4:3294340-3294490	WERI-Rb-1	eye:	n/a	chr4:3294348-3294361
37	CTCF	chr4:3294380-3294530	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr4:3294360-3294510	HMEC	breast:	n/a	n/a
39	CTCF	chr4:3294400-3294550	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr4:3295920-3296070	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr4:3294427-3294539	NHEK	skin:	n/a	n/a
42	CTCF	chr4:3295496-3295628	GM12878	blood:	n/a	n/a
43	CTCF	chr4:3294340-3294490	GM12875	blood:	n/a	chr4:3294348-3294361
44	CTCF	chr4:3294420-3294570	AG04449	skin:	n/a	n/a
45	CTCF	chr4:3294360-3294510	SAEC	small airway:	n/a	n/a
46	CTCF	chr4:3294440-3294590	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr4:3294425-3294558	GM19238	blood:	n/a	n/a
48	CTCF	chr4:3294300-3294450	AG04449	skin:	n/a	chr4:3294348-3294361
49	CTCF	chr4:3294503-3294564	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:3295676-3295726	GM13976	blood:	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	chr4:3293715-3293765	AG09319	gingival:	n/a
2	chr4:3293715-3293765	AG09319	gingival:	n/a
3	chr4:3294241-3294291	Hepatocyte	liver:	n/a
4	chr4:3295736-3295786	K562	blood:	n/a
5	chr4:3294592-3294642	Hepatocyte	liver:	n/a
6	chr4:3293715-3293765	Hepatocyte	liver:	n/a
7	chr4:3295736-3295786	MCF10A-Er-Src	breast:	n/a
8	chr4:3294592-3294642	SAEC	small airway:	n/a
9	chr4:3293715-3293765	HAEpiC	amniotic membrane:	n/a
10	chr4:3295736-3295786	HRE	kidney:	n/a
11	chr4:3293715-3293765	NT2-D1	testis:	n/a
12	chr4:3294241-3294291	IMR90	lung:	fetal
13	chr4:3293715-3293765	HEK293	kidney:	embryo
14	chr4:3294592-3294642	MCF10A-Er-Src	breast:	n/a
15	chr4:3294400-3294450	NH-A	brain:	n/a
16	chr4:3295736-3295786	HIPEpiC	eye:	n/a
17	chr4:3294241-3294291	NHDF-neo	bronchial:	n/a
18	chr4:3294592-3294642	ECC-1	luminal epithelium:	n/a
19	chr4:3294241-3294291	AoSMC	blood vessel:	n/a
20	chr4:3294592-3294642	AoSMC	blood vessel:	n/a
21	chr4:3294592-3294642	HCM	heart:	n/a
22	chr4:3295736-3295786	HAEpiC	amniotic membrane:	n/a
23	chr4:3294241-3294291	HAEpiC	amniotic membrane:	n/a
24	chr4:3294592-3294642	PANC-1	pancreas:	n/a
25	chr4:3294592-3294642	HEEpiC	esophagus:	n/a
26	chr4:3294241-3294291	AG04450	lung:	fetal
27	chr4:3294241-3294291	K562	blood:	n/a
28	chr4:3295736-3295786	Jurkat	blood:	n/a
29	chr4:3294241-3294291	PFSK-1	brain:	n/a
30	chr4:3294592-3294642	RPTEC	kidney:	n/a
31	chr4:3295736-3295786	HCM	heart:	n/a
32	chr4:3294592-3294642	A549	lung:	n/a
33	chr4:3294241-3294291	BE2_C	brain:	n/a
34	chr4:3295736-3295786	NHDF-neo	bronchial:	n/a
35	chr4:3295736-3295786	HRCEpiC	kidney:	n/a
36	chr4:3294592-3294642	HEK293	kidney:	embryo
37	chr4:3294241-3294291	NHBE	bronchial:	n/a
38	chr4:3294241-3294291	GM12891	blood:	n/a
39	chr4:3294241-3294291	MCF-7	breast:	n/a
40	chr4:3293715-3293765	Jurkat	blood:	n/a
41	chr4:3294400-3294450	HIPEpiC	eye:	n/a
42	chr4:3294400-3294450	Jurkat	blood:	n/a
43	chr4:3294592-3294642	K562	blood:	n/a
44	chr4:3295736-3295786	RPTEC	kidney:	n/a
45	chr4:3294241-3294291	HCF	heart:	n/a
46	chr4:3294241-3294291	PANC-1	pancreas:	n/a
47	chr4:3294241-3294291	SKMC	muscle:	n/a
48	chr4:3295736-3295786	PrEC	prostate:	n/a
49	chr4:3294592-3294642	HepG2	liver:	n/a
50	chr4:3295736-3295786	Hela-S3	cervix:	n/a

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

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

No data

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

Extended variants
information (count: 97 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs567888889	chr4:3294678-3294679	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs544696023	chr4:3294760-3294761	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs189988058	chr4:3294932-3294933	Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs532215407	chr4:3295031-3295032	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs139468582	chr4:3295179-3295180	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs34020206	chr4:3295184-3295185	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs114424534	chr4:3295195-3295196	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	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
35	rs371553023	chr4:3295268-3295269	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
36	rs116824562	chr4:3295294-3295295	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
37	rs199879712	chr4:3295385-3295386	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
38	rs71636711	chr4:3295393-3295394	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
39	rs71608262	chr4:3295400-3295401	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs71608263	chr4:3295412-3295413	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs71636712	chr4:3295417-3295418	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs56342126	chr4:3295426-3295427	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs74196159	chr4:3295430-3295431	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs71636714	chr4:3295441-3295442	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs71608264	chr4:3295444-3295445	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs71636715	chr4:3295446-3295447	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs71608265	chr4:3295451-3295452	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs73077114	chr4:3295468-3295469	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs551686383	chr4:3295477-3295478	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs199892944	chr4:3295493-3295494	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' 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:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3292600-3294000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:3292600-3294400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3292800-3293800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:3292800-3294000	Enhancers	Fetal Brain Male	brain
6	chr4:3293000-3293800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:3293000-3293800	Weak transcription	Small Intestine	intestine
8	chr4:3293000-3294000	Flanking Active TSS	Right Ventricle	heart
9	chr4:3293000-3294200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:3293200-3293800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:3293200-3293800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:3293200-3293800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr4:3293200-3293800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:3293200-3293800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:3293200-3293800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:3293200-3293800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:3293200-3293800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:3293200-3293800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:3293200-3293800	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr4:3293200-3293800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr4:3293200-3293800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr4:3293200-3293800	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr4:3293200-3293800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr4:3293200-3293800	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr4:3293200-3293800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr4:3293200-3293800	Flanking Active TSS	Fetal Lung	lung
28	chr4:3293200-3293800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:3293200-3293800	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr4:3293200-3294000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:3293200-3294000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr4:3293200-3294000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr4:3293200-3294000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:3293200-3294000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:3293200-3294000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:3293200-3294000	Flanking Active TSS	Liver	Liver
37	chr4:3293200-3294000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr4:3293200-3294000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr4:3293200-3294000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr4:3293200-3294000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr4:3293200-3294000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:3293200-3294000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:3293200-3294000	Flanking Active TSS	NHEK	skin
44	chr4:3293200-3294400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:3293200-3294400	Flanking Active TSS	Colonic Mucosa	Colon
46	chr4:3293200-3294400	Flanking Active TSS	HMEC	breast
47	chr4:3293200-3295400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:3293200-3295600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:3293200-3295600	Active TSS	Hela-S3	cervix
50	chr4:3293200-3295600	Active TSS	NHDF-Ad	bronchial

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