Variant report

Variant	nsv983633
Chromosome Location	chr13:69474506-69481633
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	chr13:69468479..69470579-chr13:69472768..69475321,2	MCF-7	breast:

Extended variants
information (count: 217 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35529654	chr13:69474522-69474523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397968287	chr13:69474525-69474526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4883830	chr13:69474529-69474530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553554169	chr13:69474534-69474535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566413201	chr13:69474554-69474555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11618580	chr13:69474640-69474641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558081131	chr13:69474662-69474663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574888620	chr13:69474683-69474684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181700074	chr13:69474786-69474787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554551546	chr13:69474790-69474791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369971893	chr13:69474791-69474792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574702847	chr13:69474806-69474807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540024701	chr13:69474832-69474833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575023294	chr13:69474907-69474908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141352000	chr13:69474910-69474911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570195521	chr13:69474994-69474995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184437632	chr13:69475044-69475045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548544796	chr13:69475051-69475052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531006676	chr13:69475131-69475132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77580148	chr13:69475172-69475173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565420316	chr13:69475176-69475177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530915565	chr13:69475179-69475180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550983381	chr13:69475186-69475187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76146516	chr13:69475188-69475189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549493384	chr13:69475201-69475202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567799283	chr13:69475229-69475230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142471710	chr13:69475241-69475242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566769985	chr13:69475248-69475249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546836721	chr13:69475285-69475286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535094825	chr13:69475297-69475298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567056138	chr13:69475310-69475311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2492562	chr13:69475321-69475322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551843703	chr13:69475325-69475326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188960560	chr13:69475371-69475372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565965659	chr13:69475382-69475383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181326053	chr13:69475387-69475388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186335733	chr13:69475393-69475394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189180090	chr13:69475400-69475401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553828651	chr13:69475467-69475468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577103741	chr13:69475530-69475531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180860676	chr13:69475558-69475559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114887185	chr13:69475587-69475588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187358010	chr13:69475635-69475636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544248552	chr13:69475642-69475643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373386960	chr13:69475677-69475678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143919605	chr13:69475701-69475702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547267496	chr13:69475726-69475727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540918452	chr13:69475761-69475762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148664865	chr13:69475774-69475775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2492563	chr13:69475787-69475788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69472000-69478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:69478800-69479800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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