Variant report

Variant	esv3367706
Chromosome Location	chr4:79574895-79575447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:79574866-79575195	K562	blood:	n/a	n/a
2	ATF3	chr4:79574876-79575142	K562	blood:	n/a	n/a
3	ATF3	chr4:79574832-79575130	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr4:79574862-79575187	K562	blood:	n/a	n/a
5	CCNT2	chr4:79574828-79575107	K562	blood:	n/a	n/a
6	CEBPB	chr4:79574921-79575305	K562	blood:	n/a	n/a
7	CEBPB	chr4:79574872-79575264	K562	blood:	n/a	n/a
8	CEBPD	chr4:79574804-79575308	K562	blood:	n/a	n/a
9	EP300	chr4:79574460-79576528	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:79574663-79575124	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr4:79574653-79575106	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr4:79575098-79575107	GM12878	blood:	n/a	n/a
13	ETS1	chr4:79574825-79575210	A549	lung:	n/a	n/a
14	FOS	chr4:79574886-79575196	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:79574996-79575098	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:79574920-79575207	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:79574866-79575059	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA1	chr4:79574663-79575220	PBDE	blood:	n/a	n/a
19	GATA2	chr4:79574658-79575221	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr4:79574677-79575236	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr4:79574676-79575298	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr4:79574761-79575261	SH-SY5Y	brain:	n/a	n/a
23	HCFC1	chr4:79574747-79575259	K562	blood:	n/a	n/a
24	IRF1	chr4:79575436-79575447	K562	blood:	n/a	n/a
25	JUN	chr4:79574834-79575144	K562	blood:	n/a	n/a
26	JUND	chr4:79574895-79575163	K562	blood:	n/a	n/a
27	MAFK	chr4:79575431-79575619	HepG2	liver:	n/a	chr4:79575512-79575523 chr4:79575512-79575523 chr4:79575490-79575504 chr4:79575511-79575522
28	MAX	chr4:79574849-79575198	K562	blood:	n/a	n/a
29	MAX	chr4:79574896-79575151	K562	blood:	n/a	n/a
30	MAX	chr4:79574870-79575186	NB4	blood:	n/a	n/a
31	MAX	chr4:79574814-79575156	K562	blood:	n/a	n/a
32	MAX	chr4:79574829-79575198	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr4:79574875-79575216	K562	blood:	n/a	n/a
34	MYC	chr4:79574953-79575129	NB4	blood:	n/a	n/a
35	MYC	chr4:79574863-79575227	K562	blood:	n/a	n/a
36	POLR2A	chr4:79575441-79575698	ProgFib	skin:	n/a	n/a
37	SIX5	chr4:79574778-79575199	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIX5	chr4:79574869-79575189	A549	lung:	n/a	n/a
39	SIX5	chr4:79574855-79575172	K562	blood:	n/a	n/a
40	SIX5	chr4:79574872-79575138	K562	blood:	n/a	n/a
41	SIX5	chr4:79574817-79575155	K562	blood:	n/a	n/a
42	SIX5	chr4:79574916-79575233	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIX5	chr4:79574878-79575154	K562	blood:	n/a	n/a
44	TAL1	chr4:79575019-79575081	K562	blood:	n/a	n/a
45	USF1	chr4:79574743-79575208	H1-hESC	embryonic stem cell:	n/a	chr4:79575023-79575034
46	USF1	chr4:79574824-79575195	A549	lung:	n/a	chr4:79575023-79575034
47	USF1	chr4:79574810-79575173	SK-N-SH_RA	brain:	n/a	chr4:79575023-79575034
48	USF1	chr4:79574677-79575215	K562	blood:	n/a	chr4:79575023-79575034
49	USF1	chr4:79574701-79575225	ECC-1	luminal epithelium:	n/a	chr4:79575023-79575034
50	USF1	chr4:79574626-79575273	H1-hESC	embryonic stem cell:	n/a	chr4:79575023-79575034

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79574981-79575031	SK-N-MC	brain:	n/a
2	chr4:79574981-79575031	HRPEpiC	eye:	n/a
3	chr4:79574981-79575031	HRE	kidney:	n/a
4	chr4:79574981-79575031	NH-A	brain:	n/a
5	chr4:79574981-79575031	MCF-7	breast:	n/a
6	chr4:79574981-79575031	AG04449	skin:	fetal
7	chr4:79574981-79575031	AG10803	skin:	n/a
8	chr4:79574981-79575031	HRCEpiC	kidney:	n/a
9	chr4:79574981-79575031	PrEC	prostate:	n/a
10	chr4:79574981-79575031	HUVEC	blood vessel:	n/a
11	chr4:79574981-79575031	ovcar-3	ovarian:	n/a
12	chr4:79574981-79575031	HL-60	blood:	n/a
13	chr4:79574981-79575031	NT2-D1	testis:	n/a
14	chr4:79574981-79575031	RPTEC	kidney:	n/a
15	chr4:79574981-79575031	CMK	blood:	n/a
16	chr4:79574981-79575031	K562	blood:	n/a
17	chr4:79574981-79575031	NB4	blood:	n/a
18	chr4:79574981-79575031	HIPEpiC	eye:	n/a
19	chr4:79574981-79575031	Hela-S3	cervix:	n/a
20	chr4:79574981-79575031	AoSMC	blood vessel:	n/a
21	chr4:79574981-79575031	HAEpiC	amniotic membrane:	n/a
22	chr4:79574981-79575031	GM12878	blood:	n/a
23	chr4:79574981-79575031	GM19239	blood:	n/a
24	chr4:79574981-79575031	HNPCEpiC	eye:	n/a
25	chr4:79574981-79575031	SK-N-SH	brain:	n/a
26	chr4:79574981-79575031	HCF	heart:	n/a
27	chr4:79574981-79575031	HEEpiC	esophagus:	n/a
28	chr4:79574981-79575031	HCT-116	colon:	n/a
29	chr4:79574981-79575031	U87	brain:	n/a
30	chr4:79574981-79575031	BJ	skin:	n/a
31	chr4:79574981-79575031	NHDF-neo	bronchial:	n/a
32	chr4:79574981-79575031	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:79574981-79575031	IMR90	lung:	fetal
34	chr4:79574981-79575031	LNCaP	prostate:	n/a
35	chr4:79574981-79575031	NHBE	bronchial:	n/a
36	chr4:79574981-79575031	GM12891	blood:	n/a
37	chr4:79574981-79575031	HepG2	liver:	n/a
38	chr4:79574981-79575031	SAEC	small airway:	n/a
39	chr4:79574981-79575031	Caco-2	colon:	n/a
40	chr4:79574981-79575031	Jurkat	blood:	n/a
41	chr4:79574981-79575031	PANC-1	pancreas:	n/a
42	chr4:79574981-79575031	GM12892	blood:	n/a
43	chr4:79574981-79575031	HMEC	breast:	n/a
44	chr4:79574981-79575031	A549	lung:	n/a
45	chr4:79574981-79575031	Hepatocyte	liver:	n/a
46	chr4:79574981-79575031	PFSK-1	brain:	n/a
47	chr4:79574981-79575031	SK-N-SH_RA	brain:	n/a
48	chr4:79574981-79575031	GM06990	blood:	n/a
49	chr4:79574981-79575031	AG09319	gingival:	n/a
50	chr4:79574981-79575031	BE2_C	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
2	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:
3	chr4:79573524..79575616-chr4:79695748..79697732,2	MCF-7	breast:
4	chr4:79574980..79576539-chr4:79577266..79578943,2	K562	blood:
5	chr4:79571726..79575122-chr4:79694078..79695730,3	K562	blood:
6	chr4:79536352..79538431-chr4:79574021..79576567,2	K562	blood:
7	chr4:79575433..79577300-chr4:79588056..79590576,2	MCF-7	breast:
8	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
9	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
10	chr4:79573896..79576451-chr4:79609109..79611530,2	K562	blood:

No data

Variant related genes	Relation type
HIGD1AP13	TF binding region
HIGD1AP13	CpG island
ENSG00000260278	chromatin interactions
ENSG00000251019	chromatin interactions
ENSG00000138756	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533634872	chr4:79574932-79574933	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs550212361	chr4:79574993-79574994	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs190117113	chr4:79575017-79575018	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs4075927	chr4:79575058-79575059	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78405729	chr4:79575095-79575096	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs181861153	chr4:79575105-79575106	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs554527556	chr4:79575111-79575112	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs77837065	chr4:79575147-79575148	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372422033	chr4:79575149-79575150	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs558090014	chr4:79575156-79575157	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201594483	chr4:79575188-79575189	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs577958458	chr4:79575207-79575208	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs187284748	chr4:79575260-79575261	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200553121	chr4:79575302-79575303	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs139116637	chr4:79575304-79575305	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201518738	chr4:79575305-79575306	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs35224798	chr4:79575306-79575307	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs10634954	chr4:79575307-79575308	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
7	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
9	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
10	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
11	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:79571000-79576600	Enhancers	Osteobl	bone
13	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79572000-79575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
17	chr4:79572200-79578000	Enhancers	K562	blood
18	chr4:79572800-79575000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:79572800-79575800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:79572800-79576000	Enhancers	Brain Hippocampus Middle	brain
21	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
22	chr4:79573000-79576000	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:79573400-79575000	Enhancers	Brain Germinal Matrix	brain
26	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:79573800-79575200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:79573800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:79573800-79575400	Weak transcription	Fetal Stomach	stomach
32	chr4:79573800-79576200	Enhancers	Brain Substantia Nigra	brain
33	chr4:79573800-79577400	Weak transcription	Dnd41	blood
34	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:79573800-79579000	Weak transcription	HSMM	muscle
37	chr4:79573800-79579000	Weak transcription	NHEK	skin
38	chr4:79573800-79583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:79573800-79583600	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:79573800-79584200	Weak transcription	Left Ventricle	heart
41	chr4:79573800-79587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:79574000-79575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:79574000-79581800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:79574000-79582400	Weak transcription	Fetal Heart	heart
45	chr4:79574200-79575400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:79574200-79575400	Weak transcription	Adipose Nuclei	Adipose
47	chr4:79574200-79575400	Weak transcription	Fetal Lung	lung
48	chr4:79574200-79575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:79574200-79580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:79574200-79583000	Weak transcription	HSMMtube	muscle

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