Variant report

Variant	nsv525215
Chromosome Location	chr4:45355115-45374305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 303 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:303 , 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	rs4695097	chr4:45355115-45355116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577601517	chr4:45355129-45355130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181871152	chr4:45355137-45355138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563440919	chr4:45355157-45355158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530865912	chr4:45355205-45355206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549961060	chr4:45355212-45355213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186081402	chr4:45355216-45355217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374354337	chr4:45355244-45355245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529213896	chr4:45355331-45355332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368457201	chr4:45355359-45355360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547357669	chr4:45355410-45355411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116919721	chr4:45355419-45355420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539436990	chr4:45355455-45355456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35565418	chr4:45355516-45355517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551348968	chr4:45355531-45355532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569776350	chr4:45355562-45355563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377259645	chr4:45355611-45355612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146780489	chr4:45355661-45355662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112535442	chr4:45355672-45355673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189366200	chr4:45355673-45355674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535364832	chr4:45355727-45355728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570593853	chr4:45355738-45355739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181422918	chr4:45355743-45355744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145863158	chr4:45355761-45355762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187056136	chr4:45355767-45355768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191093827	chr4:45355817-45355818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575711697	chr4:45355830-45355831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542730650	chr4:45355836-45355837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368352950	chr4:45355857-45355858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142104150	chr4:45355866-45355867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561950869	chr4:45355881-45355882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183407130	chr4:45355894-45355895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151121991	chr4:45355933-45355934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559688497	chr4:45356030-45356031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570890109	chr4:45356033-45356034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28427125	chr4:45356045-45356046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141017802	chr4:45356087-45356088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540313714	chr4:45356109-45356110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146487518	chr4:45356231-45356232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72470902	chr4:45356232-45356233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562751607	chr4:45356275-45356276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185916443	chr4:45356301-45356302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372098799	chr4:45356311-45356312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10517131	chr4:45356340-45356341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567891590	chr4:45356353-45356354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534905173	chr4:45356373-45356374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553106813	chr4:45356379-45356380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571620264	chr4:45356422-45356423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150247073	chr4:45356427-45356428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556962230	chr4:45356432-45356433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45352800-45355600	Weak transcription	Ovary	ovary
2	chr4:45355000-45355800	Enhancers	Fetal Brain Male	brain
3	chr4:45355400-45355600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:45355400-45355800	Enhancers	Fetal Brain Female	brain
5	chr4:45355800-45361200	Weak transcription	Fetal Brain Male	brain
6	chr4:45360200-45360400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:45360400-45360800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:45360400-45360800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:45360600-45361200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:45360600-45363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:45360800-45361000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:45360800-45361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:45360800-45362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:45361000-45361200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:45361000-45361400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:45361000-45361600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:45361000-45363000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr4:45361200-45361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:45361200-45361600	Enhancers	Fetal Brain Male	brain
20	chr4:45361400-45361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:45361800-45362200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr4:45361800-45362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:45362000-45362800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr4:45362400-45363000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:45372600-45372800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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