Variant report

Variant	esv1826357
Chromosome Location	chr4:147876484-147900981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:147896783-147897205	K562	blood:	n/a	n/a
2	CEBPB	chr4:147885164-147885229	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:147878065-147878789	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:147896616-147897052	K562	blood:	n/a	n/a
5	CEBPB	chr4:147896651-147896927	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:147877992-147878766	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:147896626-147896912	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr4:147896610-147896959	K562	blood:	n/a	n/a
9	CEBPB	chr4:147896697-147896930	K562	blood:	n/a	n/a
10	CTCF	chr4:147890280-147890430	NHLF	lung:	n/a	n/a
11	CTCF	chr4:147890400-147890550	HMF	breast:	n/a	n/a
12	CTCF	chr4:147890420-147890570	RPTEC	kidney:	n/a	n/a
13	CTCF	chr4:147890360-147890510	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr4:147890320-147890470	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr4:147890360-147890510	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr4:147890340-147890490	BE2_C	brain:	n/a	n/a
17	CTCF	chr4:147890380-147890530	HAc	cerebellar:	n/a	n/a
18	CTCF	chr4:147890340-147890490	HCFaa	heart:	n/a	n/a
19	CTCF	chr4:147890360-147890510	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:147890380-147890530	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr4:147890380-147890530	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr4:147890400-147890550	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr4:147890405-147890494	K562	blood:	n/a	n/a
24	CTCF	chr4:147890448-147890481	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:147890416-147890498	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F4	chr4:147878515-147878969	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr4:147896711-147897182	K562	blood:	n/a	n/a
28	EP300	chr4:147878408-147878826	Hela-S3	cervix:	n/a	n/a
29	FOS	chr4:147878407-147878810	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr4:147878361-147878804	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:147899822-147900143	MCF10A-Er-Src	breast:	n/a	chr4:147899915-147899922 chr4:147899915-147899923 chr4:147899914-147899923
32	FOS	chr4:147880911-147881193	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:147898266-147898579	MCF10A-Er-Src	breast:	n/a	chr4:147898439-147898451 chr4:147898441-147898450 chr4:147898440-147898449
34	FOS	chr4:147899823-147900081	MCF10A-Er-Src	breast:	n/a	chr4:147899915-147899922 chr4:147899915-147899923 chr4:147899914-147899923
35	FOS	chr4:147878411-147878772	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:147890042-147890407	HUVEC	blood vessel:	n/a	n/a
37	FOS	chr4:147899758-147900166	MCF10A-Er-Src	breast:	n/a	chr4:147899915-147899922 chr4:147899915-147899923 chr4:147899914-147899923
38	FOS	chr4:147898294-147898489	MCF10A-Er-Src	breast:	n/a	chr4:147898439-147898451 chr4:147898441-147898450 chr4:147898440-147898449
39	FOS	chr4:147898294-147898571	MCF10A-Er-Src	breast:	n/a	chr4:147898439-147898451 chr4:147898441-147898450 chr4:147898440-147898449
40	FOS	chr4:147897327-147897529	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:147880942-147881110	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:147899806-147900114	MCF10A-Er-Src	breast:	n/a	chr4:147899915-147899922 chr4:147899915-147899923 chr4:147899914-147899923
43	FOS	chr4:147878358-147878811	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr4:147898271-147898622	MCF10A-Er-Src	breast:	n/a	chr4:147898439-147898451 chr4:147898441-147898450 chr4:147898440-147898449
45	FOS	chr4:147878325-147878938	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:147877287-147877700	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:147877296-147877382	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL2	chr4:147878402-147878759	SK-N-SH	brain:	n/a	n/a
49	GATA1	chr4:147896480-147897083	K562	blood:	n/a	chr4:147896965-147896972 chr4:147896801-147896818 chr4:147896965-147896972 chr4:147896958-147896979 chr4:147896965-147896972
50	GATA2	chr4:147896639-147897238	SH-SY5Y	brain:	n/a	chr4:147896965-147896972 chr4:147896801-147896818 chr4:147896960-147896974 chr4:147896965-147896972 chr4:147896958-147896979 chr4:147896965-147896972

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147891557..147893991-chr4:148019262..148022234,2	K562	blood:
2	chr4:147888276..147890425-chr4:147892906..147895902,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU4F2-3	chr4:147878590-147878638	XLOC_003726
2	lnc-POU4F2-3	chr4:147896307-147896466	XLOC_003726
3	lnc-POU4F2-3	chr4:147883395-147883497	XLOC_003726
4	lnc-POU4F2-3	chr4:147896223-147896609	XLOC_003726
5	lnc-POU4F2-3	chr4:147880597-147880727	XLOC_003726
6	lnc-POU4F2-3	chr4:147895010-147895140	XLOC_003726

Variant related genes	Relation type
ENSG00000248346	TF binding region
ENSG00000248346	chromatin interactions

Extended variants
information (count: 571 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73853261	chr4:147876611-147876612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369628343	chr4:147876639-147876640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528617373	chr4:147876677-147876678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544283139	chr4:147876728-147876729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150736875	chr4:147876738-147876739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183147063	chr4:147876752-147876753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562069502	chr4:147876793-147876794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566435058	chr4:147876868-147876869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550093177	chr4:147876901-147876902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569731777	chr4:147876986-147876987	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538863223	chr4:147877047-147877048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552105801	chr4:147877076-147877077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565742079	chr4:147877080-147877081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534416881	chr4:147877106-147877107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs554104218	chr4:147877113-147877114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370202380	chr4:147877118-147877119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567759913	chr4:147877151-147877152	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62329362	chr4:147877183-147877184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530638396	chr4:147877278-147877279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35644401	chr4:147877308-147877309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139047927	chr4:147877328-147877329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542365168	chr4:147877356-147877357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546349050	chr4:147877497-147877498	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553291390	chr4:147877638-147877639	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573330813	chr4:147877643-147877644	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561034337	chr4:147877668-147877669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562059043	chr4:147877702-147877703	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs530958525	chr4:147877710-147877711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs187830237	chr4:147877746-147877747	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563567408	chr4:147877747-147877748	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375000500	chr4:147877748-147877749	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552303362	chr4:147877751-147877752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191135415	chr4:147877754-147877755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528375887	chr4:147877799-147877800	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528165832	chr4:147877811-147877812	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182220695	chr4:147877851-147877852	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567701109	chr4:147877873-147877874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs72943825	chr4:147877884-147877885	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149446719	chr4:147877885-147877886	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188258230	chr4:147877908-147877909	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs571209608	chr4:147877912-147877913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62329363	chr4:147877972-147877973	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569311884	chr4:147877993-147877994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192782179	chr4:147878000-147878001	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573521978	chr4:147878018-147878019	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550719488	chr4:147878026-147878027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568927896	chr4:147878051-147878052	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs185213300	chr4:147878052-147878053	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs536847988	chr4:147878054-147878055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575825919	chr4:147878056-147878057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147867600-147880600	Weak transcription	Pancreas	Pancrea
2	chr4:147876400-147880000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:147877400-147879000	Enhancers	NHDF-Ad	bronchial
4	chr4:147877600-147878800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:147877600-147879000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:147877600-147882600	Enhancers	Hela-S3	cervix
7	chr4:147877800-147879000	Enhancers	HUVEC	blood vessel
8	chr4:147878000-147878600	Enhancers	HMEC	breast
9	chr4:147878000-147879200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:147878000-147879200	Enhancers	NH-A	brain
11	chr4:147878000-147879200	Enhancers	NHEK	skin
12	chr4:147878000-147879200	Enhancers	Osteobl	bone
13	chr4:147878600-147880800	Weak transcription	HMEC	breast
14	chr4:147879000-147880600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:147879200-147880400	Weak transcription	NH-A	brain
16	chr4:147879200-147880600	Weak transcription	Osteobl	bone
17	chr4:147879200-147880800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:147880000-147881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:147880400-147880600	Enhancers	NH-A	brain
20	chr4:147880600-147880800	Enhancers	Pancreas	Pancrea
21	chr4:147880600-147881200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:147880600-147881400	Enhancers	Osteobl	bone
23	chr4:147880600-147882000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:147880800-147881200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:147880800-147881200	Enhancers	HMEC	breast
26	chr4:147881000-147881200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:147882000-147882200	Enhancers	Fetal Heart	heart
28	chr4:147882000-147882400	Enhancers	Left Ventricle	heart
29	chr4:147882200-147882600	Flanking Active TSS	Fetal Heart	heart
30	chr4:147882600-147882800	Enhancers	Fetal Heart	heart
31	chr4:147889400-147890800	Enhancers	NH-A	brain
32	chr4:147889600-147890200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:147889800-147890800	Enhancers	HUVEC	blood vessel
34	chr4:147890000-147890400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:147895000-147898400	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:147895600-147897000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:147895600-147898000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:147895600-147898200	Enhancers	Fetal Thymus	thymus
39	chr4:147895600-147898200	Enhancers	Thymus	Thymus
40	chr4:147895600-147899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:147896000-147896400	Enhancers	HUVEC	blood vessel
42	chr4:147896400-147896800	Weak transcription	HUVEC	blood vessel
43	chr4:147896600-147896800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:147896800-147897600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:147896800-147897800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:147896800-147898200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:147896800-147898200	Enhancers	HUVEC	blood vessel
48	chr4:147897000-147897400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:147897000-147897600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:147897000-147897800	Enhancers	HUES64 Cell Line	embryonic stem cell

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