Variant report

Variant	esv275029
Chromosome Location	chr4:55571761-55582463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:
2	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:
3	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:

Extended variants
information (count: 413 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141325828	chr4:55571788-55571789	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572767790	chr4:55571812-55571813	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62297992	chr4:55571817-55571818	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189379536	chr4:55571829-55571830	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4864918	chr4:55571893-55571894	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538590365	chr4:55571905-55571906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386674508	chr4:55571958-55571959	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6835928	chr4:55571959-55571960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181465768	chr4:55571960-55571961	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554727825	chr4:55571973-55571974	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547953706	chr4:55571980-55571981	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186582925	chr4:55571981-55571982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115783714	chr4:55572024-55572025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149105205	chr4:55572080-55572081	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546173830	chr4:55572095-55572096	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565071943	chr4:55572166-55572167	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530816431	chr4:55572169-55572170	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190978889	chr4:55572178-55572179	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541198472	chr4:55572220-55572221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567488251	chr4:55572249-55572250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143035986	chr4:55572250-55572251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553318330	chr4:55572304-55572305	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566517080	chr4:55572393-55572394	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34688139	chr4:55572394-55572395	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17084663	chr4:55572414-55572415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558516807	chr4:55572539-55572540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569484570	chr4:55572572-55572573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545000082	chr4:55572589-55572590	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564368796	chr4:55572618-55572619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114381885	chr4:55572624-55572625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569870157	chr4:55572731-55572732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554813784	chr4:55572773-55572774	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574701209	chr4:55572850-55572851	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540380267	chr4:55572856-55572857	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3111808	chr4:55572872-55572873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185951876	chr4:55572895-55572896	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558568705	chr4:55572897-55572898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571949360	chr4:55572907-55572908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534492194	chr4:55572909-55572910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17084666	chr4:55572944-55572945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3111809	chr4:55572970-55572971	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543559873	chr4:55573012-55573013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182831537	chr4:55573053-55573054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561128217	chr4:55573115-55573116	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34636061	chr4:55573248-55573249	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377590954	chr4:55573282-55573283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143388949	chr4:55573290-55573291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377102206	chr4:55573295-55573296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147540142	chr4:55573302-55573303	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148594615	chr4:55573316-55573317	Weak transcription Strong transcription Genic enhancers 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
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
4	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
5	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:55561400-55572000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:55563200-55573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:55565000-55573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:55565000-55574000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:55565000-55576000	Weak transcription	Ovary	ovary
13	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
17	chr4:55567800-55574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55569200-55572200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:55569400-55572000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
22	chr4:55570800-55573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:55570800-55573400	Weak transcription	NHDF-Ad	bronchial
24	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:55571400-55573200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:55571400-55573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:55571600-55573400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:55572000-55573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:55572000-55573400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:55572200-55573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:55572600-55574200	Weak transcription	Gastric	stomach
34	chr4:55573200-55573600	Enhancers	HUVEC	blood vessel
35	chr4:55573200-55574200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:55573200-55575400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:55573400-55573600	Enhancers	Brain Substantia Nigra	brain
40	chr4:55573400-55573800	Enhancers	Thymus	Thymus
41	chr4:55573400-55574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:55573400-55574600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:55573400-55574600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:55573400-55575000	Strong transcription	NHDF-Ad	bronchial
45	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:55573600-55573800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:55573600-55575400	Weak transcription	HUVEC	blood vessel
49	chr4:55573600-55575400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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