Variant report

Variant	nsv980502
Chromosome Location	chr4:45065237-45077593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 483 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76004786	chr4:45065295-45065296	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189353470	chr4:45065325-45065326	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564688052	chr4:45065332-45065333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531927980	chr4:45065403-45065404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369424881	chr4:45065429-45065430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201220535	chr4:45065431-45065432	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181513437	chr4:45065501-45065502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142393379	chr4:45065527-45065528	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186046500	chr4:45065528-45065529	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117972370	chr4:45065538-45065539	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75842474	chr4:45065545-45065546	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555296983	chr4:45065555-45065556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189761012	chr4:45065583-45065584	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375782531	chr4:45065642-45065643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368998821	chr4:45065660-45065661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151306562	chr4:45065661-45065662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550851616	chr4:45065724-45065725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139527528	chr4:45065847-45065848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573708272	chr4:45065864-45065865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62409869	chr4:45065871-45065872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535489076	chr4:45065936-45065937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113977191	chr4:45065939-45065940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553780740	chr4:45066056-45066057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572206414	chr4:45066064-45066065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541329652	chr4:45066074-45066075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181415775	chr4:45066077-45066078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564548491	chr4:45066101-45066102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538162789	chr4:45066105-45066106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116779392	chr4:45066124-45066125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543771733	chr4:45066159-45066160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186623529	chr4:45066225-45066226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145141894	chr4:45066229-45066230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547417961	chr4:45066230-45066231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556655852	chr4:45066243-45066244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190674184	chr4:45066249-45066250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10084844	chr4:45066353-45066354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182873571	chr4:45066401-45066402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560017017	chr4:45066432-45066433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538083503	chr4:45066468-45066469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549704882	chr4:45066472-45066473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568371843	chr4:45066475-45066476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535731304	chr4:45066480-45066481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572182126	chr4:45066500-45066501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141957968	chr4:45066542-45066543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34779898	chr4:45066563-45066564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539542566	chr4:45066588-45066589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367551056	chr4:45066600-45066601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552682040	chr4:45066656-45066657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78111820	chr4:45066681-45066682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576049107	chr4:45066687-45066688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Prostate cancer	16573809	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
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45064800-45066600	Enhancers	Fetal Brain Female	brain
2	chr4:45065000-45065800	Enhancers	Stomach Smooth Muscle	stomach
3	chr4:45065000-45066000	Enhancers	Fetal Brain Male	brain
4	chr4:45065200-45065600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:45065200-45065600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:45065200-45065800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:45065200-45065800	Enhancers	Fetal Muscle Leg	muscle
8	chr4:45065200-45066000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:45065200-45066000	Enhancers	Fetal Kidney	kidney
10	chr4:45065200-45066200	Enhancers	Brain Germinal Matrix	brain
11	chr4:45065200-45066200	Enhancers	Fetal Heart	heart
12	chr4:45065400-45066200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:45065400-45066400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:45065600-45066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:45065600-45066000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:45065600-45066000	Enhancers	Fetal Lung	lung
17	chr4:45065600-45066200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:45065600-45066400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:45065600-45067800	Enhancers	Fetal Stomach	stomach
20	chr4:45065800-45066200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:45065800-45066800	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:45066000-45071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:45066000-45080000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:45066200-45067400	Weak transcription	Brain Germinal Matrix	brain
25	chr4:45066600-45067000	Enhancers	Fetal Muscle Trunk	muscle
26	chr4:45066800-45067000	Enhancers	Fetal Muscle Leg	muscle
27	chr4:45067400-45067800	Enhancers	Brain Germinal Matrix	brain
28	chr4:45067600-45067800	Enhancers	Fetal Lung	lung
29	chr4:45075200-45076400	Enhancers	Pancreatic Islets	Pancreatic Islet

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