Variant report

Variant	esv13364
Chromosome Location	chr4:47672193-47678554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569256705	chr4:47672210-47672211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527438550	chr4:47672246-47672247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147849997	chr4:47672276-47672277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4695266	chr4:47672280-47672281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536671922	chr4:47672282-47672283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550675876	chr4:47672300-47672301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4695267	chr4:47672301-47672302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536534303	chr4:47672333-47672334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141378819	chr4:47672342-47672343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146979850	chr4:47672380-47672381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534098978	chr4:47672436-47672437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148332497	chr4:47672467-47672468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576842511	chr4:47672500-47672501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537894956	chr4:47672563-47672564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73142032	chr4:47672574-47672575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190341985	chr4:47672588-47672589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542150437	chr4:47672590-47672591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573944995	chr4:47672599-47672600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183324599	chr4:47672601-47672602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140483865	chr4:47672614-47672615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73142033	chr4:47672616-47672617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565403169	chr4:47672620-47672621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532495134	chr4:47672621-47672622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534924231	chr4:47672643-47672644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555695192	chr4:47672715-47672716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150406871	chr4:47672725-47672726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138119606	chr4:47672797-47672798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548493464	chr4:47672834-47672835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369278518	chr4:47672896-47672897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566788848	chr4:47672906-47672907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73142035	chr4:47672950-47672951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552349652	chr4:47672978-47672979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570568425	chr4:47672993-47672994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537554968	chr4:47672995-47672996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556179474	chr4:47673024-47673025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6447579	chr4:47673086-47673087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113514430	chr4:47673150-47673151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577810297	chr4:47673159-47673160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544763817	chr4:47673175-47673176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186264773	chr4:47673222-47673223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149641063	chr4:47673232-47673233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546065013	chr4:47673297-47673298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557655998	chr4:47673298-47673299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576145690	chr4:47673353-47673354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563426864	chr4:47673369-47673370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34904473	chr4:47673403-47673404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191161246	chr4:47673420-47673421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562971427	chr4:47673423-47673424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530050664	chr4:47673462-47673463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145187877	chr4:47673564-47673565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47644400-47681400	Weak transcription	Left Ventricle	heart
2	chr4:47646400-47707400	Weak transcription	Right Ventricle	heart
3	chr4:47653400-47703200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:47667600-47672200	Weak transcription	Fetal Heart	heart
5	chr4:47671800-47672600	Enhancers	HSMMtube	muscle
6	chr4:47672200-47673400	Enhancers	Fetal Heart	heart
7	chr4:47672400-47672800	Enhancers	HSMM	muscle
8	chr4:47672600-47672800	Enhancers	Aorta	Aorta
9	chr4:47672600-47677400	Weak transcription	HSMMtube	muscle
10	chr4:47673400-47692600	Weak transcription	Fetal Heart	heart
11	chr4:47674400-47675000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:47675800-47676600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:47675800-47676600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:47675800-47676600	Enhancers	Fetal Brain Female	brain
15	chr4:47675800-47676800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:47676000-47676200	Enhancers	HMEC	breast
17	chr4:47676200-47676600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:47676200-47676600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:47676200-47676600	Flanking Active TSS	HMEC	breast
20	chr4:47676200-47676600	Enhancers	NHEK	skin
21	chr4:47676200-47676800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:47676400-47676600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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