Variant report

Variant	esv1010982
Chromosome Location	chr4:55802123-55808403
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	CEBPB	chr4:55803682-55803969	K562	blood:	n/a	n/a
2	CTCF	chr4:55808000-55808150	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr4:55807984-55808705	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr4:55808052-55809135	HUVEC	blood vessel:	n/a	chr4:55808649-55808656 chr4:55808649-55808656 chr4:55808649-55808656 chr4:55808313-55808323 chr4:55808421-55808431
5	GATA3	chr4:55806720-55806982	MCF-7	breast:	n/a	n/a
6	GATA3	chr4:55803765-55804040	MCF-7	breast:	n/a	n/a
7	GATA3	chr4:55806715-55806969	T-47D	breast:	n/a	n/a
8	JUN	chr4:55807674-55809099	HUVEC	blood vessel:	n/a	chr4:55808972-55808979 chr4:55808967-55808978 chr4:55808971-55808979
9	JUN	chr4:55803779-55803784	HepG2	liver:	n/a	n/a
10	NR2F2	chr4:55803600-55804069	K562	blood:	n/a	n/a
11	NR2F2	chr4:55803713-55804121	K562	blood:	n/a	n/a
12	PML	chr4:55803651-55803974	K562	blood:	n/a	n/a
13	POLR2A	chr4:55808296-55808463	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:55805954-55806016	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:55803572-55804064	HL-60	blood:	n/a	n/a
16	POLR2A	chr4:55807276-55807752	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr4:55807986-55808595	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr4:55808168-55808658	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr4:55807948-55808699	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr4:55807925-55808651	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr4:55803557-55803641	MCF10A-Er-Src	breast:	n/a	n/a
22	RCOR1	chr4:55803735-55804075	K562	blood:	n/a	n/a
23	RCOR1	chr4:55803721-55804041	K562	blood:	n/a	n/a
24	STAT3	chr4:55803845-55803868	MCF10A-Er-Src	breast:	n/a	n/a
25	TAL1	chr4:55803653-55804036	K562	blood:	n/a	n/a
26	TEAD4	chr4:55803630-55804123	K562	blood:	n/a	n/a
27	TEAD4	chr4:55803643-55804078	K562	blood:	n/a	n/a
28	TRIM28	chr4:55803711-55804051	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55799949..55802484-chr4:55803090..55804655,2	K562	blood:
2	chr4:55799949..55802484-chr4:55803090..55804655,2	K562	blood:

Variant related genes	Relation type
ENSG00000248317	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185643697	chr4:55802156-55802157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371052343	chr4:55802170-55802171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs904133	chr4:55802180-55802181	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376345991	chr4:55802201-55802202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80073824	chr4:55802226-55802227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538047621	chr4:55802230-55802231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377630543	chr4:55802254-55802255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574776906	chr4:55802256-55802257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532577554	chr4:55802281-55802282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550730561	chr4:55802314-55802315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188971800	chr4:55802328-55802329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192463159	chr4:55802350-55802351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555175538	chr4:55802404-55802405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74266173	chr4:55802414-55802415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73234276	chr4:55802433-55802434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148777054	chr4:55802446-55802447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562432591	chr4:55802462-55802463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142387238	chr4:55802540-55802541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147957026	chr4:55802543-55802544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561895901	chr4:55802551-55802552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527547897	chr4:55802581-55802582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547396789	chr4:55802608-55802609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141853010	chr4:55802633-55802634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536574529	chr4:55802645-55802646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56396670	chr4:55802713-55802714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566382657	chr4:55802714-55802715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184453902	chr4:55802718-55802719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568988418	chr4:55802725-55802726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187961586	chr4:55802773-55802774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12646789	chr4:55802861-55802862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558687346	chr4:55802865-55802866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12648946	chr4:55802880-55802881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145385614	chr4:55802906-55802907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34813267	chr4:55802928-55802929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147663043	chr4:55802935-55802936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565563506	chr4:55802946-55802947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181230400	chr4:55802964-55802965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556365658	chr4:55803023-55803024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562493902	chr4:55803058-55803059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141005245	chr4:55803066-55803067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35991268	chr4:55803079-55803080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183856436	chr4:55803094-55803095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575521267	chr4:55803106-55803107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189011872	chr4:55803126-55803127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12647496	chr4:55803149-55803150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10005693	chr4:55803159-55803160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564221349	chr4:55803191-55803192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112590354	chr4:55803201-55803202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552273484	chr4:55803220-55803221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181708932	chr4:55803228-55803229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Hodgkin''s lymphoma	17606441	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55796800-55810200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:55799400-55802400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:55799800-55802600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:55800800-55802400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:55801000-55802400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:55801000-55802800	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:55801000-55802800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:55801200-55803600	Weak transcription	Stomach Mucosa	stomach
9	chr4:55801600-55804400	Enhancers	HUVEC	blood vessel
10	chr4:55802000-55802600	Enhancers	Fetal Stomach	stomach
11	chr4:55802200-55802400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:55802400-55802600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:55802400-55803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:55802400-55803600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:55802400-55803600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:55802600-55803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:55802600-55807600	Weak transcription	Fetal Stomach	stomach
18	chr4:55802600-55808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:55802800-55803200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:55802800-55803600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:55803200-55806800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:55803400-55805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:55803400-55806800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:55803600-55803800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:55803600-55804000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr4:55803600-55804000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:55803600-55804200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:55803600-55804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:55803600-55804200	Enhancers	Stomach Mucosa	stomach
30	chr4:55803600-55804400	Enhancers	Fetal Lung	lung
31	chr4:55803600-55804400	Enhancers	K562	blood
32	chr4:55803600-55804600	Enhancers	Primary hematopoietic stem cells	blood
33	chr4:55803600-55804600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:55803600-55804800	Enhancers	Primary T cells from cord blood	blood
35	chr4:55803800-55804000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:55803800-55804400	Enhancers	NH-A	brain
37	chr4:55804000-55804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:55804000-55805800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:55804000-55808200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:55804200-55804600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:55804200-55806800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:55804200-55808800	Weak transcription	Stomach Mucosa	stomach
43	chr4:55804200-55811200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:55804400-55805800	Weak transcription	HUVEC	blood vessel
45	chr4:55804400-55808000	Weak transcription	NH-A	brain
46	chr4:55804600-55805600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:55804800-55805800	Weak transcription	Primary T cells from cord blood	blood
48	chr4:55805000-55806000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:55805600-55807600	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:55805800-55806800	Enhancers	Primary T cells from cord blood	blood

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