Variant report

Variant	esv3372984
Chromosome Location	chr13:69485251-69486499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370545159	chr13:69485266-69485267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564387386	chr13:69485270-69485271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547249275	chr13:69485272-69485273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138126758	chr13:69485279-69485280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552780829	chr13:69485299-69485300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564713880	chr13:69485314-69485315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143581835	chr13:69485324-69485325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79960495	chr13:69485353-69485354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529348621	chr13:69485368-69485369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188008707	chr13:69485417-69485418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373286441	chr13:69485421-69485422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147192434	chr13:69485467-69485468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532031495	chr13:69485486-69485487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535202678	chr13:69485489-69485490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192387075	chr13:69485490-69485491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571215099	chr13:69485525-69485526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34830226	chr13:69485563-69485564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145809639	chr13:69485564-69485565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76084384	chr13:69485577-69485578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61951408	chr13:69485581-69485582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs397958679	chr13:69485582-69485583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188708198	chr13:69485583-69485584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368139529	chr13:69485597-69485598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556818944	chr13:69485604-69485605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550325363	chr13:69485605-69485606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372390003	chr13:69485609-69485610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573284959	chr13:69485611-69485612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201583981	chr13:69485619-69485620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375590205	chr13:69485629-69485630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377326634	chr13:69485645-69485646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201506227	chr13:69485648-69485649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199837029	chr13:69485656-69485657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61951409	chr13:69485657-69485658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370005653	chr13:69485658-69485659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148707520	chr13:69485667-69485668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142354954	chr13:69485671-69485672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544834552	chr13:69485672-69485673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372232912	chr13:69485677-69485678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192815071	chr13:69485679-69485680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375547033	chr13:69485683-69485684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369326488	chr13:69485687-69485688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532963377	chr13:69485688-69485689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28853699	chr13:69485699-69485700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184164283	chr13:69485705-69485706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368935290	chr13:69485707-69485708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200621169	chr13:69485710-69485711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61951410	chr13:69485711-69485712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201347519	chr13:69485716-69485717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200754255	chr13:69485727-69485728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28812886	chr13:69485729-69485730	Weak transcription	n/a	n/a	Overlapped CNVs	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69483400-69486800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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