Variant report

Variant	esv3411477
Chromosome Location	chr4:101918479-101920527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563909061	chr4:101918517-101918518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190466617	chr4:101918547-101918548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549146306	chr4:101918550-101918551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193240218	chr4:101918564-101918565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184470194	chr4:101918614-101918615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141147718	chr4:101918684-101918685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77378587	chr4:101918723-101918724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538958663	chr4:101918731-101918732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556715187	chr4:101918753-101918754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568755834	chr4:101918755-101918756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537135278	chr4:101918791-101918792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547446789	chr4:101918804-101918805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555448362	chr4:101918805-101918806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573929505	chr4:101918817-101918818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541091128	chr4:101918833-101918834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553598728	chr4:101918891-101918892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113900459	chr4:101918896-101918897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374567132	chr4:101918961-101918962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150708624	chr4:101919012-101919013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189455370	chr4:101919056-101919057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559677606	chr4:101919117-101919118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139042627	chr4:101919134-101919135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181340164	chr4:101919142-101919143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548267712	chr4:101919159-101919160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560791571	chr4:101919165-101919166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569862931	chr4:101919180-101919181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549837261	chr4:101919192-101919193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560823711	chr4:101919239-101919240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375049058	chr4:101919258-101919259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566115338	chr4:101919283-101919284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201070589	chr4:101919398-101919399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78843815	chr4:101919399-101919400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528054457	chr4:101919404-101919405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546262363	chr4:101919539-101919540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377716434	chr4:101919552-101919553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141325826	chr4:101919574-101919575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36208684	chr4:101919575-101919576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552363970	chr4:101919586-101919587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532301117	chr4:101919665-101919666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146398944	chr4:101919693-101919694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139677068	chr4:101919716-101919717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530118516	chr4:101919741-101919742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184023556	chr4:101919749-101919750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144432066	chr4:101919765-101919766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535155340	chr4:101919792-101919793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553072827	chr4:101919801-101919802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145246724	chr4:101919847-101919848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2732508	chr4:101919853-101919854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148754924	chr4:101919860-101919861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188362588	chr4:101919873-101919874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101914800-101924600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:101918200-101919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:101918400-101918600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:101918400-101918800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:101918600-101919000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:101918600-101919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:101919200-101924400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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