Variant report

Variant	esv3371860
Chromosome Location	chr4:56889445-56891043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56883287..56885527-chr4:56888797..56891128,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547254624	chr4:56889523-56889524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556617328	chr4:56889535-56889536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10213231	chr4:56889636-56889637	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552600477	chr4:56889661-56889662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371777582	chr4:56889698-56889699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28368303	chr4:56889738-56889739	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537812873	chr4:56889769-56889770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554576708	chr4:56889782-56889783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576752798	chr4:56889807-56889808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530037967	chr4:56889834-56889835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563454710	chr4:56889838-56889839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34585837	chr4:56889854-56889855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571725497	chr4:56889855-56889856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71666105	chr4:56889856-56889857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566001880	chr4:56889857-56889858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6842522	chr4:56889873-56889874	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569914001	chr4:56889897-56889898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534555820	chr4:56889918-56889919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547732044	chr4:56890008-56890009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554061055	chr4:56890067-56890068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186991250	chr4:56890107-56890108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375368186	chr4:56890128-56890129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55864931	chr4:56890129-56890130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140748470	chr4:56890175-56890176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565927643	chr4:56890186-56890187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556193629	chr4:56890239-56890240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35453188	chr4:56890267-56890268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201315173	chr4:56890299-56890300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576223154	chr4:56890374-56890375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17742000	chr4:56890534-56890535	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373371850	chr4:56890652-56890653	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375817798	chr4:56890660-56890661	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368917402	chr4:56890672-56890673	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561697213	chr4:56890677-56890678	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372409891	chr4:56890690-56890691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191813321	chr4:56890693-56890694	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375978615	chr4:56890757-56890758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138441813	chr4:56890760-56890761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142533757	chr4:56890764-56890765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145993112	chr4:56890766-56890767	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112623651	chr4:56890769-56890770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200156388	chr4:56890772-56890773	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374373347	chr4:56890793-56890794	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182659431	chr4:56890806-56890807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374709224	chr4:56890820-56890821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568994334	chr4:56890824-56890825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141287050	chr4:56890826-56890827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548174062	chr4:56890828-56890829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568154955	chr4:56890860-56890861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62308620	chr4:56890863-56890864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
4	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
5	chr4:56819200-56890600	Weak transcription	NHLF	lung
6	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
7	chr4:56823600-56893800	Weak transcription	HMEC	breast
8	chr4:56829600-56890600	Weak transcription	A549	lung
9	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:56839800-56896600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:56842800-56890800	Weak transcription	Osteobl	bone
13	chr4:56844200-56891000	Weak transcription	Colonic Mucosa	Colon
14	chr4:56847200-56891000	Weak transcription	Right Ventricle	heart
15	chr4:56852600-56890600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:56856200-56892600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:56857600-56897400	Strong transcription	Fetal Thymus	thymus
18	chr4:56857600-56898200	Strong transcription	Dnd41	blood
19	chr4:56857600-56898200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:56863200-56892600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:56864600-56894200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:56864800-56892200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:56865400-56894400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:56866200-56895000	Weak transcription	Lung	lung
25	chr4:56866800-56890600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:56866800-56890600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:56866800-56891000	Weak transcription	Esophagus	oesophagus
28	chr4:56866800-56896000	Weak transcription	Small Intestine	intestine
29	chr4:56867000-56895000	Weak transcription	Psoas Muscle	Psoas
30	chr4:56867200-56892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:56869000-56891200	Weak transcription	Fetal Brain Male	brain
32	chr4:56872200-56893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:56872200-56904800	Weak transcription	HepG2	liver
34	chr4:56873400-56897000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:56874800-56890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:56875400-56889800	Strong transcription	Primary B cells from cord blood	blood
37	chr4:56876600-56895400	Weak transcription	Brain Anterior Caudate	brain
38	chr4:56879000-56892800	Weak transcription	NHEK	skin
39	chr4:56879200-56890600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:56879200-56893400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:56880000-56897400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:56880200-56890600	Weak transcription	K562	blood
43	chr4:56880400-56897200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:56880600-56898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:56881800-56890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:56883600-56897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:56883800-56893400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr4:56883800-56895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:56883800-56897000	Strong transcription	Adipose Nuclei	Adipose
50	chr4:56883800-56897600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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