Variant report

Variant	nsv965450
Chromosome Location	chr4:44967740-44970573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537303953	chr4:44967761-44967762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73244693	chr4:44967793-44967794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73244694	chr4:44967805-44967806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541057094	chr4:44967810-44967811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553035581	chr4:44967932-44967933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578068632	chr4:44967958-44967959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545977601	chr4:44968059-44968060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202213526	chr4:44968117-44968118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1496999	chr4:44968118-44968119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186651654	chr4:44968159-44968160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376623638	chr4:44968199-44968200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528878793	chr4:44968218-44968219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56357249	chr4:44968243-44968244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190628297	chr4:44968321-44968322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144400709	chr4:44968328-44968329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532840318	chr4:44968347-44968348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115292055	chr4:44968352-44968353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570112964	chr4:44968375-44968376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140168477	chr4:44968406-44968407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555616786	chr4:44968434-44968435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567655472	chr4:44968445-44968446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141562930	chr4:44968477-44968478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552998788	chr4:44968485-44968486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1948586	chr4:44968495-44968496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182940792	chr4:44968522-44968523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146179842	chr4:44968529-44968530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541338193	chr4:44968580-44968581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1948587	chr4:44968603-44968604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs543676155	chr4:44968618-44968619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369125921	chr4:44968640-44968641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561952429	chr4:44968785-44968786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530225730	chr4:44968880-44968881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562967388	chr4:44968892-44968893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74976486	chr4:44968900-44968901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78549449	chr4:44968901-44968902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532955039	chr4:44968925-44968926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549897773	chr4:44968942-44968943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563423012	chr4:44968992-44968993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150946157	chr4:44968994-44968995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs68022841	chr4:44969011-44969012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201007154	chr4:44969014-44969015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139577440	chr4:44969045-44969046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541324994	chr4:44969086-44969087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567619256	chr4:44969107-44969108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368354602	chr4:44969220-44969221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35345808	chr4:44969233-44969234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35975418	chr4:44969235-44969236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532963789	chr4:44969248-44969249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149711689	chr4:44969257-44969258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7672928	chr4:44969268-44969269	Weak transcription Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44967200-44969400	Enhancers	HMEC	breast
3	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44970200-44971000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links