Variant report

Variant	nsv599494
Chromosome Location	chr5:117371148-117393156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117377675..117379711-chr5:117380055..117382328,2	MCF-7	breast:
2	chr5:117377675..117379711-chr5:117380055..117382328,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557999760	chr5:117378607-117378608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374947374	chr5:117378608-117378609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192635945	chr5:117378619-117378620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72771498	chr5:117378639-117378640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13159036	chr5:117378643-117378644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573362112	chr5:117378709-117378710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542389067	chr5:117378729-117378730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555975511	chr5:117378751-117378752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575827198	chr5:117378777-117378778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544494344	chr5:117378795-117378796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529923621	chr5:117378813-117378814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566390553	chr5:117378847-117378848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145242285	chr5:117378859-117378860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548618240	chr5:117378891-117378892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535943888	chr5:117378941-117378942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540214500	chr5:117378944-117378945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147612131	chr5:117378949-117378950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185107388	chr5:117378973-117378974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548704299	chr5:117379016-117379017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568628700	chr5:117379022-117379023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11367045	chr5:117379067-117379068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114493027	chr5:117379077-117379078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575749979	chr5:117379151-117379152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539995834	chr5:117379160-117379161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190086084	chr5:117379249-117379250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571476157	chr5:117379272-117379273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11463920	chr5:117379310-117379311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376773683	chr5:117379312-117379313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140027001	chr5:117379387-117379388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553399617	chr5:117379412-117379413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145426675	chr5:117379419-117379420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573625475	chr5:117379426-117379427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535935385	chr5:117379437-117379438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555862983	chr5:117379501-117379502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115565139	chr5:117379518-117379519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145212679	chr5:117379524-117379525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558109843	chr5:117379526-117379527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578195054	chr5:117379528-117379529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375495168	chr5:117379555-117379556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540906345	chr5:117379613-117379614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540554853	chr5:117379642-117379643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149142702	chr5:117379656-117379657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11746491	chr5:117379681-117379682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573945707	chr5:117379689-117379690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181163219	chr5:117379763-117379764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184692493	chr5:117379769-117379770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562555518	chr5:117379785-117379786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531313955	chr5:117379786-117379787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544401837	chr5:117379791-117379792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143223219	chr5:117379816-117379817	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117378600-117379200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:117378800-117381000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:117379200-117379600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117379200-117381000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:117379600-117380000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:117379600-117381200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:117379600-117381200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:117379600-117381200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:117380000-117380400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:117380200-117381000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:117380200-117381000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:117380800-117381200	Enhancers	H1 Cell Line	embryonic stem cell

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