Variant report

Variant	nsv964058
Chromosome Location	chr4:69900771-69904058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374464840	chr4:69900777-69900778	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148786478	chr4:69900778-69900779	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557840325	chr4:69900837-69900838	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536902086	chr4:69900865-69900866	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574064313	chr4:69900866-69900867	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185855118	chr4:69900884-69900885	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189119067	chr4:69900889-69900890	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575784463	chr4:69900926-69900927	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535118869	chr4:69900928-69900929	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544918775	chr4:69900936-69900937	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554938187	chr4:69900941-69900942	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576414023	chr4:69900946-69900947	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564810810	chr4:69900952-69900953	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180756443	chr4:69900955-69900956	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367544407	chr4:69900968-69900969	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142148782	chr4:69900980-69900981	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4694152	chr4:69901002-69901003	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183845858	chr4:69901009-69901010	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375039215	chr4:69901012-69901013	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369292576	chr4:69901036-69901037	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146356735	chr4:69901042-69901043	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538405722	chr4:69901050-69901051	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552121789	chr4:69901056-69901057	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571944991	chr4:69901098-69901099	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533972595	chr4:69901107-69901108	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554127128	chr4:69901134-69901135	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567699702	chr4:69901195-69901196	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536751997	chr4:69901200-69901201	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188505166	chr4:69901212-69901213	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201547625	chr4:69901240-69901241	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181280618	chr4:69901308-69901309	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186080211	chr4:69901312-69901313	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558457840	chr4:69901342-69901343	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559184769	chr4:69901355-69901356	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572002685	chr4:69901363-69901364	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540719071	chr4:69901365-69901366	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377465799	chr4:69901398-69901399	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192046432	chr4:69901421-69901422	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139874782	chr4:69901431-69901432	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556538937	chr4:69901432-69901433	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563341877	chr4:69901474-69901475	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531966942	chr4:69901504-69901505	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551986594	chr4:69901525-69901526	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116277452	chr4:69901535-69901536	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117102783	chr4:69901552-69901553	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547725242	chr4:69901570-69901571	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4348158	chr4:69901607-69901608	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145159447	chr4:69901618-69901619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143307754	chr4:69901623-69901624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534564034	chr4:69901627-69901628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69900400-69901800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:69900600-69901600	Enhancers	A549	lung
3	chr4:69901600-69904600	Weak transcription	A549	lung
4	chr4:69901800-69904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:69903000-69903200	Enhancers	Fetal Kidney	kidney
6	chr4:69903800-69905000	Enhancers	Muscle Satellite Cultured Cells	--

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