Variant report

Variant	nsv878740
Chromosome Location	chr4:20292239-20333722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20314844..20315471-chr4:20420114..20421061,2	MCF-7	breast:
2	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:
3	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:
4	chr4:20301094..20301849-chr4:20546151..20546964,2	MCF-7	breast:

Extended variants
information (count: 1561 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1561 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs593943	chr4:20292239-20292240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567202999	chr4:20292248-20292249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141346987	chr4:20292297-20292298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146274694	chr4:20292332-20292333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79172539	chr4:20292377-20292378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554957848	chr4:20292378-20292379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78267156	chr4:20292379-20292380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201496160	chr4:20292392-20292393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138182054	chr4:20292399-20292400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142781892	chr4:20292404-20292405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535876574	chr4:20292427-20292428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555463929	chr4:20292467-20292468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374544806	chr4:20292468-20292469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575764146	chr4:20292474-20292475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536703931	chr4:20292537-20292538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554775588	chr4:20292544-20292545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575562854	chr4:20292576-20292577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146083537	chr4:20292632-20292633	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573434665	chr4:20292672-20292673	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544602665	chr4:20292698-20292699	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368239436	chr4:20292699-20292700	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565309993	chr4:20292707-20292708	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77337729	chr4:20292727-20292728	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545341490	chr4:20292770-20292771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563448235	chr4:20292781-20292782	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189544971	chr4:20292820-20292821	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140065218	chr4:20292837-20292838	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149807964	chr4:20292850-20292851	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78895574	chr4:20292891-20292892	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546166346	chr4:20292906-20292907	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75400844	chr4:20292908-20292909	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115417725	chr4:20292939-20292940	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550884035	chr4:20292948-20292949	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371984665	chr4:20292962-20292963	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536438479	chr4:20293042-20293043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71607014	chr4:20293110-20293111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71607015	chr4:20293112-20293113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3113802	chr4:20293115-20293116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11735150	chr4:20293117-20293118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555191457	chr4:20293153-20293154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374902044	chr4:20293162-20293163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78173246	chr4:20293226-20293227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371363218	chr4:20293281-20293282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375965987	chr4:20293285-20293286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369000719	chr4:20293299-20293300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534407765	chr4:20293320-20293321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577334950	chr4:20293330-20293331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577826105	chr4:20293437-20293438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148571879	chr4:20293455-20293456	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563581528	chr4:20293505-20293506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:20281800-20294000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:20286200-20292400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:20287400-20298200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:20290600-20298000	Weak transcription	Fetal Lung	lung
7	chr4:20291200-20292800	Enhancers	NHEK	skin
8	chr4:20291600-20294600	Weak transcription	Osteobl	bone
9	chr4:20291800-20292600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:20291800-20293400	Weak transcription	HUVEC	blood vessel
11	chr4:20291800-20293400	Weak transcription	NHDF-Ad	bronchial
12	chr4:20291800-20297600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:20291800-20300200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:20291800-20319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:20292200-20293600	Enhancers	Fetal Brain Male	brain
16	chr4:20292200-20298000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:20292400-20305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:20292600-20293000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:20293000-20295800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:20293400-20293800	Strong transcription	NHDF-Ad	bronchial
21	chr4:20293800-20297000	Weak transcription	NHDF-Ad	bronchial
22	chr4:20294600-20295000	Enhancers	Osteobl	bone
23	chr4:20295000-20298200	Weak transcription	Osteobl	bone
24	chr4:20295800-20296000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20296000-20296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:20296200-20296600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20296600-20304000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:20297000-20297200	Enhancers	NHDF-Ad	bronchial
29	chr4:20297200-20298200	Weak transcription	NHDF-Ad	bronchial
30	chr4:20297600-20298200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:20298000-20298200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:20298000-20298200	Flanking Active TSS	Fetal Lung	lung
33	chr4:20298000-20298400	Enhancers	Colon Smooth Muscle	Colon
34	chr4:20298000-20298600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:20298200-20298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:20298200-20298400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:20298200-20298400	Enhancers	Fetal Lung	lung
38	chr4:20298200-20298400	Active TSS	NHDF-Ad	bronchial
39	chr4:20298200-20298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:20298200-20299000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:20298200-20302000	Enhancers	Osteobl	bone
42	chr4:20298400-20298600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:20298400-20298600	Flanking Active TSS	Fetal Lung	lung
44	chr4:20298400-20298600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:20298400-20299400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:20298600-20298800	Enhancers	NHDF-Ad	bronchial
47	chr4:20298600-20299400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:20298600-20299800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:20298600-20300600	Enhancers	Fetal Lung	lung
50	chr4:20298800-20299200	Weak transcription	NHDF-Ad	bronchial

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