Variant report

Variant	nsv527095
Chromosome Location	chr4:20447040-20455955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs884770	chr4:20447040-20447041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142944942	chr4:20447052-20447053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537880655	chr4:20447082-20447083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188085749	chr4:20447087-20447088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568380983	chr4:20447161-20447162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549890350	chr4:20447203-20447204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7434609	chr4:20447206-20447207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553902059	chr4:20447245-20447246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77090887	chr4:20447279-20447280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539539286	chr4:20447361-20447362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193048376	chr4:20447371-20447372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546840934	chr4:20447430-20447431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568265887	chr4:20447460-20447461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1398031	chr4:20447461-20447462	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574742238	chr4:20447519-20447520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542146478	chr4:20447523-20447524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560384562	chr4:20447545-20447546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148510830	chr4:20447549-20447550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199676943	chr4:20447615-20447616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185223901	chr4:20447642-20447643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564234567	chr4:20447658-20447659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34935995	chr4:20447659-20447660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531322168	chr4:20447664-20447665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190470035	chr4:20447757-20447758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535618875	chr4:20447785-20447786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192528412	chr4:20447859-20447860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77581400	chr4:20447891-20447892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142853002	chr4:20447944-20447945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548225823	chr4:20447955-20447956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568045736	chr4:20447968-20447969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185095202	chr4:20447969-20447970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540055744	chr4:20447986-20447987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34943171	chr4:20447996-20447997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558093616	chr4:20448031-20448032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150646875	chr4:20448100-20448101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537155966	chr4:20448227-20448228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369549424	chr4:20448237-20448238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575510410	chr4:20448255-20448256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188245823	chr4:20448258-20448259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574127826	chr4:20448263-20448264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542134289	chr4:20448269-20448270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560366916	chr4:20448290-20448291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527606307	chr4:20448312-20448313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554126030	chr4:20448380-20448381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114394323	chr4:20448418-20448419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545948324	chr4:20448447-20448448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564136665	chr4:20448450-20448451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139811982	chr4:20448506-20448507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543200802	chr4:20448519-20448520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143787112	chr4:20448554-20448555	Weak transcription Enhancers	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
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20444000-20449000	Enhancers	Colon Smooth Muscle	Colon
2	chr4:20444200-20449600	Enhancers	Fetal Lung	lung
3	chr4:20444800-20447600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:20445600-20447400	Weak transcription	Fetal Kidney	kidney
5	chr4:20446200-20447400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:20446200-20449200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:20446600-20447400	Weak transcription	Fetal Stomach	stomach
8	chr4:20446600-20447800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:20446600-20447800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:20446600-20448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:20446800-20447200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:20446800-20447800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:20447000-20448800	Enhancers	NHDF-Ad	bronchial
14	chr4:20447200-20448600	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:20447400-20447800	Enhancers	Fetal Muscle Leg	muscle
16	chr4:20447400-20447800	Enhancers	Ovary	ovary
17	chr4:20447400-20448000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:20447400-20448000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:20447400-20448000	Enhancers	HSMMtube	muscle
20	chr4:20447400-20448200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:20447400-20448200	Enhancers	Fetal Kidney	kidney
22	chr4:20447400-20449400	Enhancers	Fetal Stomach	stomach
23	chr4:20447600-20447800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:20447600-20447800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:20447800-20448000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:20447800-20448600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:20447800-20454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:20447800-20457800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:20448000-20448200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:20448000-20449000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:20448000-20454000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:20448000-20456600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:20448200-20448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:20448200-20449400	Weak transcription	Fetal Kidney	kidney
35	chr4:20448600-20449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:20448800-20449000	Enhancers	HSMMtube	muscle
37	chr4:20448800-20457600	Weak transcription	NHDF-Ad	bronchial
38	chr4:20449200-20449400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:20449400-20449600	Enhancers	Fetal Kidney	kidney
40	chr4:20449400-20453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:20449600-20486000	Weak transcription	Fetal Lung	lung
42	chr4:20453200-20454800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:20454000-20454600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:20454000-20454600	Enhancers	Brain Hippocampus Middle	brain
45	chr4:20454000-20454800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:20454200-20454400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:20454400-20455200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:20454600-20457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:20454800-20457600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:20455200-20455800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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