Variant report

Variant	nsv10521
Chromosome Location	chr4:69880432-69883223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557261709	chr4:69880446-69880447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569777520	chr4:69880447-69880448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60831809	chr4:69880487-69880488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181229281	chr4:69880509-69880510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185822350	chr4:69880512-69880513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13144838	chr4:69880528-69880529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377117597	chr4:69880533-69880534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535155713	chr4:69880535-69880536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190538953	chr4:69880554-69880555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570823510	chr4:69880617-69880618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539726356	chr4:69880628-69880629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369427469	chr4:69880636-69880637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566523726	chr4:69880659-69880660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535985900	chr4:69880737-69880738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555590627	chr4:69880739-69880740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575648361	chr4:69880747-69880748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372785103	chr4:69880774-69880775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552869940	chr4:69880777-69880778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537669226	chr4:69880778-69880779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571673321	chr4:69880805-69880806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557953109	chr4:69880836-69880837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182929544	chr4:69880860-69880861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540513329	chr4:69880863-69880864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187037169	chr4:69880873-69880874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200787602	chr4:69880880-69880881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191830885	chr4:69880883-69880884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184070095	chr4:69880884-69880885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540948574	chr4:69880886-69880887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4568300	chr4:69880888-69880889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187594356	chr4:69880896-69880897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191442378	chr4:69880911-69880912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138489799	chr4:69880930-69880931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182477785	chr4:69880969-69880970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566784632	chr4:69880972-69880973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149262364	chr4:69880974-69880975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549331425	chr4:69880977-69880978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368616618	chr4:69881009-69881010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577498386	chr4:69881039-69881040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569271257	chr4:69881121-69881122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538323748	chr4:69881163-69881164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187115947	chr4:69881170-69881171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371520852	chr4:69881179-69881180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543644539	chr4:69881219-69881220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373139662	chr4:69881234-69881235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554109357	chr4:69881273-69881274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75819895	chr4:69881313-69881314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542270272	chr4:69881376-69881377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562489224	chr4:69881389-69881390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576084088	chr4:69881409-69881410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529392775	chr4:69881453-69881454	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69868800-69882000	Weak transcription	HepG2	liver
2	chr4:69880200-69880800	Enhancers	Liver	Liver
3	chr4:69880800-69882000	Weak transcription	Liver	Liver
4	chr4:69882000-69882200	Flanking Active TSS	Liver	Liver
5	chr4:69882000-69883800	Enhancers	HepG2	liver
6	chr4:69882200-69882400	Enhancers	Liver	Liver
7	chr4:69882400-69882800	Flanking Active TSS	Liver	Liver
8	chr4:69882800-69883000	Active TSS	Liver	Liver
9	chr4:69883000-69883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:69883000-69883200	Flanking Active TSS	Liver	Liver
11	chr4:69883200-69883400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:69883200-69886200	Active TSS	Liver	Liver

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