Variant report

Variant	esv1799567
Chromosome Location	chr4:57853485-57857771
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	ATF3	chr4:57856318-57856641	K562	blood:	n/a	n/a
2	BHLHE40	chr4:57856425-57856582	K562	blood:	n/a	n/a
3	CEBPB	chr4:57856314-57856614	A549	lung:	n/a	chr4:57856447-57856458
4	CEBPB	chr4:57856359-57856518	K562	blood:	n/a	chr4:57856447-57856458
5	CEBPB	chr4:57856196-57856738	HCT-116	colon:	n/a	chr4:57856447-57856458
6	CEBPB	chr4:57856299-57856627	Hela-S3	cervix:	n/a	chr4:57856447-57856458
7	CEBPB	chr4:57856348-57856618	HepG2	liver:	n/a	chr4:57856447-57856458
8	CEBPB	chr4:57856285-57856619	K562	blood:	n/a	chr4:57856447-57856458
9	CEBPB	chr4:57856276-57856623	K562	blood:	n/a	chr4:57856447-57856458
10	CEBPB	chr4:57856361-57856602	H1-hESC	embryonic stem cell:	n/a	chr4:57856447-57856458
11	CEBPB	chr4:57856268-57856643	IMR90	lung:	n/a	chr4:57856447-57856458
12	E2F4	chr4:57856215-57856415	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr4:57856323-57856812	K562	blood:	n/a	n/a
14	FOS	chr4:57856331-57856585	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:57856315-57856616	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:57856314-57856626	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:57856277-57856616	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr4:57856890-57857007	SH-SY5Y	brain:	n/a	n/a
19	JUND	chr4:57856314-57856542	HepG2	liver:	n/a	n/a
20	JUND	chr4:57856264-57856645	K562	blood:	n/a	n/a
21	MAFK	chr4:57854055-57854075	IMR90	lung:	n/a	chr4:57854060-57854074 chr4:57854064-57854073
22	MAFK	chr4:57854056-57854140	HepG2	liver:	n/a	chr4:57854060-57854074 chr4:57854064-57854073
23	MAFK	chr4:57853984-57854103	HepG2	liver:	n/a	chr4:57854060-57854074 chr4:57854064-57854073
24	MAZ	chr4:57856261-57856456	K562	blood:	n/a	n/a
25	MXI1	chr4:57857493-57857529	K562	blood:	n/a	n/a
26	MYC	chr4:57853823-57853892	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr4:57856410-57856547	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr4:57853901-57853917	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr4:57856346-57856626	K562	blood:	n/a	n/a
30	MYC	chr4:57856411-57856428	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:57856410-57856747	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:57855867-57856897	K562	blood:	n/a	n/a
33	POLR2A	chr4:57855883-57855973	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:57853987-57854068	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:57855657-57855940	K562	blood:	n/a	n/a
36	POLR2A	chr4:57853812-57854010	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:57855444-57855649	ProgFib	skin:	n/a	n/a
38	POLR2A	chr4:57857722-57858223	K562	blood:	n/a	n/a
39	POLR2A	chr4:57854047-57854554	K562	blood:	n/a	n/a
40	POLR2A	chr4:57854269-57854512	K562	blood:	n/a	n/a
41	POLR2A	chr4:57853986-57854006	K562	blood:	n/a	n/a
42	POLR2A	chr4:57853032-57853795	K562	blood:	n/a	n/a
43	POLR2A	chr4:57857697-57857747	K562	blood:	n/a	n/a
44	POLR2A	chr4:57854557-57854646	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:57855342-57855529	K562	blood:	n/a	n/a
46	POLR2A	chr4:57855745-57856017	K562	blood:	n/a	n/a
47	POLR2A	chr4:57853817-57853835	MCF-7	breast:	n/a	n/a
48	POLR2A	chr4:57855633-57856117	K562	blood:	n/a	n/a
49	POLR2A	chr4:57853754-57853810	MCF-7	breast:	n/a	n/a
50	POLR2A	chr4:57854286-57854439	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57854152..57858062-chr4:57860294..57862898,3	K562	blood:
2	chr4:57841254..57846591-chr4:57852896..57857451,6	MCF-7	breast:
3	chr4:57856196..57858263-chr4:57863410..57864964,2	K562	blood:
4	chr4:57845155..57847188-chr4:57856587..57858696,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238579	TF binding region
ENSG00000047315	chromatin interactions
ENSG00000084092	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183101775	chr4:57853486-57853487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534287213	chr4:57853488-57853489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187035703	chr4:57853526-57853527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs36211510	chr4:57853568-57853569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs61263122	chr4:57853569-57853570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200452564	chr4:57853573-57853574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201283854	chr4:57853575-57853576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199666243	chr4:57853576-57853577	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202233795	chr4:57853577-57853578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs398063575	chr4:57853578-57853579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191876776	chr4:57853628-57853629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539353616	chr4:57853637-57853638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556454863	chr4:57853776-57853777	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576393288	chr4:57853804-57853805	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182292304	chr4:57853822-57853823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10025890	chr4:57853863-57853864	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7685791	chr4:57853864-57853865	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs145255558	chr4:57853876-57853877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560524809	chr4:57853909-57853910	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549852048	chr4:57853911-57853912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557704732	chr4:57853916-57853917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9991234	chr4:57853917-57853918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531864588	chr4:57853925-57853926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548214913	chr4:57853929-57853930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188038348	chr4:57853947-57853948	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568410950	chr4:57854102-57854103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373798324	chr4:57854255-57854256	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573527536	chr4:57854264-57854265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144597786	chr4:57854274-57854275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1277286	chr4:57854298-57854299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573708126	chr4:57854410-57854411	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1277285	chr4:57854486-57854487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62310294	chr4:57854503-57854504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374219231	chr4:57854539-57854540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147886297	chr4:57854551-57854552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535731204	chr4:57854561-57854562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555418378	chr4:57854562-57854563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141427961	chr4:57854568-57854569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568162851	chr4:57854587-57854588	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540778670	chr4:57854601-57854602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113017865	chr4:57854605-57854606	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35706166	chr4:57854659-57854660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376398053	chr4:57854668-57854669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs77826312	chr4:57854677-57854678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78189882	chr4:57854680-57854681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370008872	chr4:57854692-57854693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577662981	chr4:57854726-57854727	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143627015	chr4:57854728-57854729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551597132	chr4:57854733-57854734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531900965	chr4:57854774-57854775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846000-57853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:57846200-57853600	Weak transcription	Esophagus	oesophagus
5	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57847000-57853800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:57847000-57853800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:57847000-57861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57847200-57853600	Weak transcription	Spleen	Spleen
13	chr4:57847600-57853800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:57847600-57856000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:57847800-57853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:57848000-57861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:57848400-57860800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:57848400-57875200	Weak transcription	Stomach Mucosa	stomach
19	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:57849000-57855200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:57849200-57869000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:57849200-57886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:57849400-57853800	Weak transcription	Right Ventricle	heart
25	chr4:57849400-57854000	Weak transcription	Small Intestine	intestine
26	chr4:57849400-57857600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:57849600-57884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:57849800-57857000	Strong transcription	Fetal Intestine Small	intestine
29	chr4:57849800-57861400	Weak transcription	Psoas Muscle	Psoas
30	chr4:57850000-57854200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:57850000-57855800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:57850200-57854800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:57850400-57856000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:57850400-57858200	Strong transcription	Primary B cells from cord blood	blood
35	chr4:57850400-57858600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:57850600-57854400	Strong transcription	K562	blood
37	chr4:57850600-57855400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:57850600-57855600	Strong transcription	NH-A	brain
39	chr4:57850600-57870200	Strong transcription	GM12878-XiMat	blood
40	chr4:57850600-57899400	Strong transcription	Fetal Thymus	thymus
41	chr4:57850800-57859400	Strong transcription	Fetal Stomach	stomach
42	chr4:57850800-57899400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:57851000-57860600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:57851000-57861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:57851000-57899200	Strong transcription	Primary T cells from cord blood	blood
46	chr4:57851000-57899400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:57851200-57854600	Strong transcription	Fetal Lung	lung
48	chr4:57851200-57858400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:57851200-57859200	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:57851200-57897200	Strong transcription	Fetal Intestine Large	intestine

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