Variant report

Variant	esv3328254
Chromosome Location	chr4:186631145-186631464
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	ARID3A	chr4:186631332-186631713	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:186631297-186631664	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:186631327-186631653	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:186631297-186631664	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr4:186631307-186631592	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:186631351-186631653	A549	lung:	n/a	n/a
7	CEBPB	chr4:186631379-186631603	MCF-7	breast:	n/a	n/a
8	CEBPB	chr4:186631348-186631597	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:186631444-186631497	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr4:186631277-186631674	HepG2	liver:	n/a	n/a
11	CEBPD	chr4:186631292-186631574	HepG2	liver:	n/a	n/a
12	E2F4	chr4:186631365-186631611	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr4:186631270-186631755	HepG2	liver:	n/a	n/a
14	EP300	chr4:186631396-186631597	HepG2	liver:	n/a	n/a
15	FOS	chr4:186630939-186632206	MCF10A-Er-Src	breast:	n/a	chr4:186631394-186631405 chr4:186631097-186631108 chr4:186632035-186632043
16	FOS	chr4:186630927-186632161	MCF10A-Er-Src	breast:	n/a	chr4:186631394-186631405 chr4:186631097-186631108 chr4:186632035-186632043
17	FOS	chr4:186630925-186632192	MCF10A-Er-Src	breast:	n/a	chr4:186631394-186631405 chr4:186631097-186631108 chr4:186632035-186632043
18	FOS	chr4:186630943-186632191	MCF10A-Er-Src	breast:	n/a	chr4:186631394-186631405 chr4:186631097-186631108 chr4:186632035-186632043
19	FOS	chr4:186630898-186631219	HUVEC	blood vessel:	n/a	chr4:186631097-186631108
20	FOXA1	chr4:186631317-186631514	A549	lung:	n/a	n/a
21	FOXA1	chr4:186631318-186631617	HepG2	liver:	n/a	n/a
22	FOXA2	chr4:186631349-186631639	HepG2	liver:	n/a	n/a
23	HDAC2	chr4:186631278-186631613	HepG2	liver:	n/a	n/a
24	HNF4A	chr4:186631365-186631629	HepG2	liver:	n/a	n/a
25	HNF4G	chr4:186631328-186631631	HepG2	liver:	n/a	n/a
26	JUND	chr4:186631057-186631558	HepG2	liver:	n/a	chr4:186631394-186631405 chr4:186631097-186631108
27	MAX	chr4:186631310-186631612	HepG2	liver:	n/a	n/a
28	MAX	chr4:186631206-186631850	HepG2	liver:	n/a	n/a
29	MAX	chr4:186631341-186631649	Hela-S3	cervix:	n/a	n/a
30	MAX	chr4:186631196-186631761	HepG2	liver:	n/a	n/a
31	MBD4	chr4:186631287-186631767	HepG2	liver:	n/a	n/a
32	MYC	chr4:186631321-186632131	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:186630952-186632125	MCF10A-Er-Src	breast:	n/a	n/a
34	NR3C1	chr4:186631218-186631633	A549	lung:	n/a	chr4:186631395-186631404 chr4:186631609-186631616 chr4:186631545-186631563 chr4:186631544-186631565
35	NR3C1	chr4:186630985-186631202	A549	lung:	n/a	n/a
36	NR3C1	chr4:186631300-186631645	A549	lung:	n/a	chr4:186631395-186631404 chr4:186631609-186631616 chr4:186631545-186631563 chr4:186631544-186631565
37	NR3C1	chr4:186631304-186631571	A549	lung:	n/a	chr4:186631395-186631404 chr4:186631545-186631563 chr4:186631544-186631565
38	NR3C1	chr4:186631228-186631595	A549	lung:	n/a	chr4:186631395-186631404 chr4:186631545-186631563 chr4:186631544-186631565
39	NR3C1	chr4:186631297-186631552	A549	lung:	n/a	chr4:186631395-186631404
40	POLR2A	chr4:186630833-186632172	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:186631165-186632122	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:186631171-186632187	U87	brain:	n/a	n/a
43	POLR2A	chr4:186631001-186631639	U87	brain:	n/a	n/a
44	RCOR1	chr4:186631378-186631677	HepG2	liver:	n/a	n/a
45	RXRA	chr4:186631378-186631646	HepG2	liver:	n/a	chr4:186631544-186631553
46	STAT3	chr4:186631227-186632214	MCF10A-Er-Src	breast:	n/a	chr4:186631420-186631432
47	STAT3	chr4:186631054-186632235	MCF10A-Er-Src	breast:	n/a	chr4:186631420-186631432
48	STAT3	chr4:186631288-186632225	MCF10A-Er-Src	breast:	n/a	chr4:186631420-186631432
49	STAT3	chr4:186631212-186632131	MCF10A-Er-Src	breast:	n/a	chr4:186631420-186631432
50	TEAD4	chr4:186631321-186631749	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000207497	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150073872	chr4:186631164-186631165	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543650646	chr4:186631166-186631167	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563213994	chr4:186631182-186631183	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573814439	chr4:186631194-186631195	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542610332	chr4:186631226-186631227	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182263526	chr4:186631249-186631250	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62334777	chr4:186631272-186631273	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62334778	chr4:186631273-186631274	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201123946	chr4:186631298-186631299	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs34609453	chr4:186631310-186631311	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28617776	chr4:186631324-186631325	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62334779	chr4:186631340-186631341	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7677363	chr4:186631388-186631389	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Burkitt''s lymphoma	19759907	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:186623600-186633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:186625600-186633000	Weak transcription	Ovary	ovary
5	chr4:186626200-186631800	Weak transcription	Esophagus	oesophagus
6	chr4:186626400-186632200	Weak transcription	Aorta	Aorta
7	chr4:186626400-186633000	Weak transcription	Gastric	stomach
8	chr4:186626400-186633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:186627000-186633000	Weak transcription	Fetal Stomach	stomach
10	chr4:186627200-186633000	Weak transcription	Pancreas	Pancrea
11	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:186627800-186633600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:186627800-186633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:186628200-186637600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:186628400-186631600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:186628600-186632200	Enhancers	NHDF-Ad	bronchial
17	chr4:186628600-186632800	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:186629000-186635400	Enhancers	HUVEC	blood vessel
19	chr4:186629200-186633600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:186629200-186634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:186629400-186632800	Weak transcription	Fetal Intestine Large	intestine
22	chr4:186629400-186633400	Weak transcription	Small Intestine	intestine
23	chr4:186629600-186632600	Enhancers	Fetal Heart	heart
24	chr4:186629600-186632800	Weak transcription	Fetal Intestine Small	intestine
25	chr4:186629600-186633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:186629600-186634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:186629800-186633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:186630000-186631600	Enhancers	Osteobl	bone
29	chr4:186630000-186631800	Weak transcription	Right Ventricle	heart
30	chr4:186630000-186633200	Weak transcription	Left Ventricle	heart
31	chr4:186630000-186651600	Weak transcription	HSMM	muscle
32	chr4:186630600-186632200	Enhancers	Hela-S3	cervix
33	chr4:186630600-186633400	Enhancers	HepG2	liver
34	chr4:186630600-186634600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:186630600-186635200	Enhancers	HMEC	breast
36	chr4:186630600-186635200	Enhancers	NH-A	brain
37	chr4:186630800-186631200	Genic enhancers	HSMMtube	muscle
38	chr4:186630800-186632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:186630800-186632600	Enhancers	Right Atrium	heart
40	chr4:186630800-186632600	Weak transcription	Stomach Mucosa	stomach
41	chr4:186630800-186632800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:186630800-186632800	Enhancers	Liver	Liver
43	chr4:186631000-186631600	Weak transcription	Lung	lung
44	chr4:186631000-186631800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:186631200-186638200	Weak transcription	HSMMtube	muscle
46	chr4:186631400-186631800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:186631400-186632600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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