Variant report

Variant	nsv4323
Chromosome Location	chr4:45689974-45713505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 373 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371804875	chr4:45689997-45689998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138241822	chr4:45690015-45690016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527528763	chr4:45690046-45690047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531294602	chr4:45690080-45690081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552403161	chr4:45690099-45690100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537763303	chr4:45690120-45690121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564127690	chr4:45690130-45690131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149552031	chr4:45690151-45690152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369842689	chr4:45690155-45690156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374650255	chr4:45690156-45690157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549719815	chr4:45690163-45690164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189190254	chr4:45690165-45690166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181081294	chr4:45690166-45690167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74734357	chr4:45690210-45690211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116373950	chr4:45690227-45690228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369736864	chr4:45690243-45690244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144236020	chr4:45690271-45690272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557946170	chr4:45690327-45690328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1563479	chr4:45690380-45690381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1563480	chr4:45690433-45690434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555716503	chr4:45690465-45690466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75843080	chr4:45690489-45690490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542140401	chr4:45690509-45690510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80096113	chr4:45690521-45690522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183593180	chr4:45690522-45690523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553341935	chr4:45690531-45690532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148789547	chr4:45690538-45690539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1563481	chr4:45690559-45690560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35114126	chr4:45690576-45690577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114247764	chr4:45690615-45690616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561724331	chr4:45690621-45690622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528839486	chr4:45690693-45690694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557891171	chr4:45690697-45690698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565999755	chr4:45690702-45690703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539767019	chr4:45690711-45690712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189461429	chr4:45690724-45690725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369217164	chr4:45690731-45690732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181821149	chr4:45690764-45690765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369134798	chr4:45690770-45690771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs748821	chr4:45690771-45690772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574082759	chr4:45690784-45690785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372897419	chr4:45690897-45690898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1869981	chr4:45690904-45690905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185962641	chr4:45690905-45690906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572340158	chr4:45690930-45690931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142261893	chr4:45690961-45690962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79462905	chr4:45690981-45690982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113828559	chr4:45691006-45691007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4643853	chr4:45691040-45691041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573492054	chr4:45691049-45691050	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45689000-45690200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:45689800-45691200	Enhancers	Hela-S3	cervix
3	chr4:45690200-45691200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:45691200-45694200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:45691200-45695000	Weak transcription	Hela-S3	cervix
6	chr4:45692800-45693200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:45694000-45695000	Enhancers	Fetal Brain Male	brain
8	chr4:45694200-45694400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:45694200-45694800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:45694600-45694800	Enhancers	Fetal Heart	heart
11	chr4:45694800-45695400	Weak transcription	Fetal Heart	heart
12	chr4:45694800-45696000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:45695000-45696600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:45695000-45696600	Enhancers	Hela-S3	cervix
15	chr4:45695400-45696400	Enhancers	Fetal Heart	heart
16	chr4:45695600-45696400	Enhancers	Fetal Lung	lung
17	chr4:45695800-45696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:45695800-45696200	Enhancers	Aorta	Aorta
19	chr4:45695800-45696200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:45695800-45696200	Enhancers	Right Atrium	heart
21	chr4:45695800-45696400	Enhancers	Ovary	ovary
22	chr4:45696000-45696400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:45696000-45696600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:45696200-45696400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:45696400-45697600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:45697600-45697800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:45698800-45699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:45699600-45700000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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