Variant report

Variant	nsv967964
Chromosome Location	chr4:47766333-47774533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 322 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:322 , 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	rs573697497	chr4:47766338-47766339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563395285	chr4:47766360-47766361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542396216	chr4:47766409-47766410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143969530	chr4:47766411-47766412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148213909	chr4:47766461-47766462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546104627	chr4:47766462-47766463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564098721	chr4:47766467-47766468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531599820	chr4:47766468-47766469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543458530	chr4:47766479-47766480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562200762	chr4:47766506-47766507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563575325	chr4:47766558-47766559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184641775	chr4:47766619-47766620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547544344	chr4:47766649-47766650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141160824	chr4:47766694-47766695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533225977	chr4:47766729-47766730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35593873	chr4:47766788-47766789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551707411	chr4:47766794-47766795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373896532	chr4:47766804-47766805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530837239	chr4:47766832-47766833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570014817	chr4:47766857-47766858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150709817	chr4:47766920-47766921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534755170	chr4:47766931-47766932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530884790	chr4:47766982-47766983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555104963	chr4:47766984-47766985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548763074	chr4:47767002-47767003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113966906	chr4:47767095-47767096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187980337	chr4:47767114-47767115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554309381	chr4:47767145-47767146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139775745	chr4:47767157-47767158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199724703	chr4:47767169-47767170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145271579	chr4:47767170-47767171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558025898	chr4:47767185-47767186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77963452	chr4:47767191-47767192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567158718	chr4:47767204-47767205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576368041	chr4:47767221-47767222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554698379	chr4:47767243-47767244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549000514	chr4:47767244-47767245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561966422	chr4:47767279-47767280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192257827	chr4:47767300-47767301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541179164	chr4:47767322-47767323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146543486	chr4:47767325-47767326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59649425	chr4:47767329-47767330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59527992	chr4:47767330-47767331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559455266	chr4:47767331-47767332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533160548	chr4:47767339-47767340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551645054	chr4:47767355-47767356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184853741	chr4:47767420-47767421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530856892	chr4:47767502-47767503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113148467	chr4:47767516-47767517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567168336	chr4:47767520-47767521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47762800-47803600	Weak transcription	Left Ventricle	heart
2	chr4:47765200-47768800	Enhancers	Fetal Heart	heart
3	chr4:47765600-47779000	Weak transcription	Right Ventricle	heart
4	chr4:47765600-47786200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:47767400-47767600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:47768800-47769200	Weak transcription	Fetal Heart	heart
7	chr4:47769200-47771000	Enhancers	Fetal Heart	heart
8	chr4:47769400-47769600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:47769400-47770600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:47769400-47770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:47769600-47770600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:47769600-47771000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:47769600-47771000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:47770000-47770400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:47770600-47775200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:47770800-47771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:47771000-47775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:47771000-47777600	Weak transcription	Fetal Heart	heart

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