Variant report

Variant	esv3330974
Chromosome Location	chr4:3886709-3908692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:192)
CpG islands
(count:795)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:192 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:3895419-3895646	GM12878	blood:	n/a	n/a
2	BATF	chr4:3895420-3895655	GM12878	blood:	n/a	n/a
3	BCL3	chr4:3901177-3901411	GM12878	blood:	n/a	n/a
4	BCL3	chr4:3902545-3902796	GM12878	blood:	n/a	n/a
5	BCL3	chr4:3900404-3900731	GM12878	blood:	n/a	n/a
6	BCL3	chr4:3900404-3900629	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3902420-3902881	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:3900114-3900304	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr4:3900073-3900440	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:3900724-3901016	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:3900665-3901030	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:3900666-3901031	IMR90	lung:	n/a	n/a
13	CEBPB	chr4:3900109-3900431	A549	lung:	n/a	n/a
14	CEBPB	chr4:3900138-3900342	K562	blood:	n/a	n/a
15	CEBPB	chr4:3900677-3901032	A549	lung:	n/a	n/a
16	CEBPB	chr4:3900078-3900440	IMR90	lung:	n/a	n/a
17	CTCF	chr4:3895400-3895550	HepG2	liver:	n/a	n/a
18	CTCF	chr4:3895400-3895550	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr4:3895400-3895550	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr4:3895380-3895530	GM12866	blood:	n/a	n/a
21	CTCF	chr4:3895420-3895570	GM12869	blood:	n/a	n/a
22	CTCF	chr4:3895400-3895550	GM12874	blood:	n/a	n/a
23	CTCF	chr4:3895420-3895689	GM12878	blood:	n/a	n/a
24	CTCF	chr4:3895437-3895635	A549	lung:	n/a	n/a
25	CTCF	chr4:3895415-3895659	GM19238	blood:	n/a	n/a
26	CTCF	chr4:3895045-3895117	GM13976	blood:	n/a	n/a
27	CTCF	chr4:3895400-3895550	GM12872	blood:	n/a	n/a
28	CTCF	chr4:3895420-3895570	GM12865	blood:	n/a	n/a
29	CTCF	chr4:3895350-3895618	HepG2	liver:	n/a	n/a
30	CTCF	chr4:3895429-3895659	GM13977	blood:	n/a	n/a
31	CTCF	chr4:3895452-3895548	LNCaP	prostate:	n/a	n/a
32	CTCF	chr4:3895427-3895651	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:3893146-3893227	Lung_OC	lung:	n/a	n/a
34	CTCF	chr4:3895352-3895664	K562	blood:	n/a	n/a
35	CTCF	chr4:3895400-3895550	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr4:3895400-3895550	GM12875	blood:	n/a	n/a
37	CTCF	chr4:3895441-3895640	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:3895320-3895470	GM12864	blood:	n/a	n/a
39	CTCF	chr4:3895420-3895570	NB4	blood:	n/a	n/a
40	CTCF	chr4:3895473-3895641	NHEK	skin:	n/a	n/a
41	CTCF	chr4:3895400-3895550	A549	lung:	n/a	n/a
42	CTCF	chr4:3895457-3895647	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:3895380-3895530	HCM	heart:	n/a	n/a
44	CTCF	chr4:3895380-3895530	HMF	breast:	n/a	n/a
45	CTCF	chr4:3895426-3895680	GM10248	blood:	n/a	n/a
46	CTCF	chr4:3895439-3895664	HepG2	liver:	n/a	n/a
47	CTCF	chr4:3895400-3895550	HPF	lung:	n/a	n/a
48	CTCF	chr4:3895320-3895470	WI-38	lung:	n/a	n/a
49	CTCF	chr4:3895340-3895490	HAc	cerebellar:	n/a	n/a
50	CTCF	chr4:3895405-3895725	K562	blood:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3898822-3898872	AoSMC	blood vessel:	n/a
2	chr4:3897762-3897812	HRCEpiC	kidney:	n/a
3	chr4:3898822-3898872	AoSMC	blood vessel:	n/a
4	chr4:3897762-3897812	HRCEpiC	kidney:	n/a
5	chr4:3899446-3899496	ProgFib	skin:	n/a
6	chr4:3899446-3899496	NT2-D1	testis:	n/a
7	chr4:3899366-3899416	Hepatocyte	liver:	n/a
8	chr4:3896780-3896830	IMR90	lung:	fetal
9	chr4:3898877-3898927	MCF-7	breast:	n/a
10	chr4:3896780-3896830	AG10803	skin:	n/a
11	chr4:3895084-3895134	HL-60	blood:	n/a
12	chr4:3899366-3899416	HIPEpiC	eye:	n/a
13	chr4:3898790-3898840	NHDF-neo	bronchial:	n/a
14	chr4:3898877-3898927	AG09319	gingival:	n/a
15	chr4:3897200-3897250	AG04449	skin:	fetal
16	chr4:3895084-3895134	U87	brain:	n/a
17	chr4:3895024-3895074	SKMC	muscle:	n/a
18	chr4:3897762-3897812	NT2-D1	testis:	n/a
19	chr4:3898877-3898927	ECC-1	luminal epithelium:	n/a
20	chr4:3899446-3899496	PANC-1	pancreas:	n/a
21	chr4:3899366-3899416	U87	brain:	n/a
22	chr4:3898790-3898840	Hela-S3	cervix:	n/a
23	chr4:3895084-3895134	AG04449	skin:	fetal
24	chr4:3897200-3897250	GM12878	blood:	n/a
25	chr4:3895084-3895134	AG04450	lung:	fetal
26	chr4:3897762-3897812	Jurkat	blood:	n/a
27	chr4:3896780-3896830	SKMC	muscle:	n/a
28	chr4:3895024-3895074	MCF-7	breast:	n/a
29	chr4:3899366-3899416	HCM	heart:	n/a
30	chr4:3898822-3898872	SAEC	small airway:	n/a
31	chr4:3899919-3899969	GM19239	blood:	n/a
32	chr4:3895084-3895134	MCF-7	breast:	n/a
33	chr4:3897437-3897487	GM19239	blood:	n/a
34	chr4:3897437-3897487	HRPEpiC	eye:	n/a
35	chr4:3897437-3897487	CMK	blood:	n/a
36	chr4:3897437-3897487	AG04449	skin:	fetal
37	chr4:3898790-3898840	GM12878	blood:	n/a
38	chr4:3897200-3897250	PFSK-1	brain:	n/a
39	chr4:3897200-3897250	AG09309	skin:	n/a
40	chr4:3899366-3899416	MCF-7	breast:	n/a
41	chr4:3897200-3897250	MCF-7	breast:	n/a
42	chr4:3896678-3896728	GM19239	blood:	n/a
43	chr4:3895024-3895074	T-47D	breast:	n/a
44	chr4:3898822-3898872	HCT-116	colon:	n/a
45	chr4:3895024-3895074	A549	lung:	n/a
46	chr4:3898822-3898872	NB4	blood:	n/a
47	chr4:3895084-3895134	HAEpiC	amniotic membrane:	n/a
48	chr4:3896678-3896728	HUVEC	blood vessel:	n/a
49	chr4:3898877-3898927	BE2_C	brain:	n/a
50	chr4:3898877-3898927	CMK	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000249522	TF binding region
OR7E163P	TF binding region
OR7E162P	TF binding region
ENSG00000249522	CpG island
OR7E163P	CpG island
OR7E162P	CpG island

Extended variants
information (count: 1118 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538222656	chr4:3893149-3893150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530306777	chr4:3893171-3893172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553321569	chr4:3893190-3893191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200208133	chr4:3893195-3893196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201041468	chr4:3893207-3893208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532789076	chr4:3893220-3893221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541202237	chr4:3894388-3894389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564497899	chr4:3894403-3894404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533203283	chr4:3894410-3894411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376163758	chr4:3894420-3894421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs28863913	chr4:3894424-3894425	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187723648	chr4:3894435-3894436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs28856043	chr4:3895003-3895004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564302678	chr4:3895008-3895009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536610315	chr4:3895009-3895010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533044055	chr4:3895024-3895025	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs182237735	chr4:3895025-3895026	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs373445475	chr4:3895041-3895042	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs569631130	chr4:3895045-3895046	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs528887082	chr4:3895049-3895050	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs549613761	chr4:3895059-3895060	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs77260516	chr4:3895061-3895062	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs535194214	chr4:3895069-3895070	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs187336313	chr4:3895077-3895078	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541668953	chr4:3895083-3895084	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189243488	chr4:3895085-3895086	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs537137056	chr4:3895103-3895104	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs557076974	chr4:3895154-3895155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181591118	chr4:3895170-3895171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28778595	chr4:3895178-3895179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74722887	chr4:3895180-3895181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572272708	chr4:3895184-3895185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541373059	chr4:3895189-3895190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113608922	chr4:3895193-3895194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28846413	chr4:3895211-3895212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543497144	chr4:3895238-3895239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563250583	chr4:3895250-3895251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528848676	chr4:3895259-3895260	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28860333	chr4:3895260-3895261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370385324	chr4:3895273-3895274	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565701248	chr4:3895276-3895277	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543325968	chr4:3895281-3895282	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185910865	chr4:3895321-3895322	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551695826	chr4:3895367-3895368	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs28766035	chr4:3895370-3895371	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368202479	chr4:3895375-3895376	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537248961	chr4:3895382-3895383	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs28789183	chr4:3895384-3895385	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190286142	chr4:3895399-3895400	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375811926	chr4:3895406-3895407	Enhancers	TF binding region	1 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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3895000-3896400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:3895200-3898200	Enhancers	Placenta	Placenta
3	chr4:3895800-3896000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3895800-3896200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:3895800-3896200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:3895800-3896800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:3895800-3897000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:3895800-3897000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:3895800-3897000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:3895800-3897000	Enhancers	HepG2	liver
11	chr4:3895800-3897200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:3896000-3896200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:3896000-3896200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:3896000-3896200	Enhancers	Fetal Intestine Small	intestine
15	chr4:3896000-3896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:3896000-3905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:3896200-3898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:3896200-3898400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:3897000-3897200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:3897200-3903800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:3898200-3906400	Weak transcription	Placenta	Placenta
22	chr4:3898400-3898600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:3898400-3898600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:3898400-3898800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:3898600-3906400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:3903600-3904200	Enhancers	NHDF-Ad	bronchial
27	chr4:3903600-3904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:3903800-3904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:3903800-3904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:3904200-3905000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:3904200-3906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:3904200-3906400	Weak transcription	NHDF-Ad	bronchial
33	chr4:3904800-3905600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:3905000-3905200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:3905000-3905200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:3905000-3906400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:3905000-3907200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:3905200-3906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:3905200-3907200	Enhancers	Osteobl	bone
40	chr4:3905200-3913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:3905600-3906400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:3905600-3906400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:3905600-3906800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:3905600-3907000	Enhancers	HSMMtube	muscle
45	chr4:3905600-3907600	Enhancers	HSMM	muscle
46	chr4:3906400-3906600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:3906400-3906800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:3906400-3906800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:3906400-3906800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:3906400-3906800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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