Variant report

Variant	nsv819551
Chromosome Location	chr4:167196888-167203619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs382617	chr4:167198238-167198239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144425494	chr4:167198264-167198265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572341870	chr4:167198330-167198331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543144766	chr4:167198332-167198333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561204395	chr4:167198335-167198336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529109616	chr4:167198341-167198342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182439398	chr4:167198352-167198353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544061817	chr4:167198395-167198396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs410691	chr4:167198429-167198430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74530010	chr4:167198444-167198445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10024954	chr4:167198461-167198462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs421201	chr4:167198487-167198488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527270538	chr4:167198491-167198492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549082089	chr4:167198496-167198497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567315652	chr4:167198532-167198533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs454256	chr4:167198580-167198581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs502270	chr4:167198601-167198602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538447025	chr4:167198621-167198622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563957211	chr4:167198622-167198623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556744876	chr4:167198631-167198632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571869650	chr4:167198634-167198635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77240753	chr4:167198642-167198643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79704206	chr4:167198655-167198656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377656273	chr4:167198681-167198682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139793459	chr4:167198718-167198719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564252973	chr4:167198730-167198731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542628543	chr4:167198760-167198761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1870531	chr4:167198762-167198763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188053710	chr4:167198776-167198777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543507542	chr4:167198781-167198782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562382766	chr4:167198785-167198786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142678817	chr4:167198797-167198798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532943545	chr4:167198808-167198809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376488106	chr4:167198816-167198817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560157298	chr4:167198828-167198829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527294416	chr4:167198882-167198883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530375948	chr4:167198957-167198958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72432253	chr4:167198969-167198970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531271112	chr4:167198970-167198971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548658175	chr4:167198977-167198978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199596874	chr4:167198981-167198982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563253256	chr4:167198982-167198983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538856565	chr4:167198983-167198984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528865642	chr4:167198984-167198985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6830174	chr4:167198990-167198991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377688891	chr4:167199010-167199011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548589514	chr4:167199017-167199018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79123576	chr4:167199060-167199061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75118318	chr4:167199061-167199062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1663605	chr4:167199111-167199112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167198200-167198800	Enhancers	Osteobl	bone
2	chr4:167198200-167199400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:167198400-167198800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:167198400-167199600	Enhancers	NH-A	brain
5	chr4:167198800-167199200	Weak transcription	Osteobl	bone
6	chr4:167199200-167199600	Enhancers	Osteobl	bone

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