Variant report

Variant	nsv471716
Chromosome Location	chr4:45178569-45181492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567741665	chr4:45178604-45178605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540577873	chr4:45178672-45178673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535682326	chr4:45178676-45178677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192542131	chr4:45178707-45178708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146970613	chr4:45178728-45178729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184963931	chr4:45178741-45178742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189028557	chr4:45178750-45178751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575953997	chr4:45178795-45178796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138108561	chr4:45178796-45178797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555210913	chr4:45178805-45178806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181021578	chr4:45178833-45178834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186357906	chr4:45178865-45178866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114439461	chr4:45178947-45178948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147480092	chr4:45178957-45178958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545304102	chr4:45179059-45179060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189636431	chr4:45179085-45179086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148541980	chr4:45179103-45179104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141826656	chr4:45179121-45179122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150619527	chr4:45179158-45179159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528619131	chr4:45179286-45179287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369766727	chr4:45179301-45179302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547085073	chr4:45179329-45179330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181560119	chr4:45179370-45179371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373258956	chr4:45179401-45179402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4256257	chr4:45179429-45179430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557815786	chr4:45179479-45179480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565379029	chr4:45179481-45179482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139946482	chr4:45179528-45179529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185930503	chr4:45179591-45179592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561825146	chr4:45179594-45179595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540742311	chr4:45179596-45179597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552609998	chr4:45179608-45179609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577817957	chr4:45179626-45179627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370549260	chr4:45179627-45179628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563862877	chr4:45179636-45179637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34072510	chr4:45179640-45179641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531215128	chr4:45179689-45179690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529093484	chr4:45179700-45179701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375315534	chr4:45179728-45179729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1581096	chr4:45179736-45179737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149852836	chr4:45179825-45179826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562625175	chr4:45179829-45179830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12641981	chr4:45179883-45179884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539406318	chr4:45179895-45179896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547121863	chr4:45179966-45179967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571767742	chr4:45179999-45180000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551004623	chr4:45180011-45180012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533204512	chr4:45180072-45180073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78878537	chr4:45180090-45180091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139676977	chr4:45180091-45180092	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
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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45178400-45180000	Weak transcription	Fetal Heart	heart
2	chr4:45180000-45180200	Enhancers	Fetal Heart	heart
3	chr4:45180200-45184600	Weak transcription	Fetal Heart	heart
4	chr4:45181400-45181800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links