Variant report

Variant	esv1832347
Chromosome Location	chr13:50373279-50374334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371079709	chr13:50373299-50373300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191742592	chr13:50373301-50373302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547673794	chr13:50373314-50373315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77140925	chr13:50373369-50373370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572133468	chr13:50373391-50373392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542341658	chr13:50373397-50373398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554208657	chr13:50373480-50373481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573916811	chr13:50373510-50373511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150519226	chr13:50373511-50373512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562852347	chr13:50373562-50373563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141594169	chr13:50373571-50373572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56378986	chr13:50373584-50373585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78762037	chr13:50373628-50373629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55747954	chr13:50373639-50373640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367757309	chr13:50373652-50373653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371540804	chr13:50373679-50373680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374904446	chr13:50373706-50373707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200267872	chr13:50373733-50373734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56042871	chr13:50373798-50373799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201505418	chr13:50373895-50373896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200043499	chr13:50373922-50373923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3901857	chr13:50373979-50373980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201103228	chr13:50374030-50374031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199700217	chr13:50374057-50374058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200500310	chr13:50374111-50374112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201402093	chr13:50374113-50374114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2181269	chr13:50374114-50374115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184234493	chr13:50374126-50374127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149749267	chr13:50374141-50374142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560268789	chr13:50374153-50374154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199872191	chr13:50374167-50374168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12019576	chr13:50374171-50374172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549516913	chr13:50374216-50374217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144525910	chr13:50374248-50374249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368227310	chr13:50374257-50374258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188677985	chr13:50374264-50374265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50368400-50378600	Weak transcription	HepG2	liver
2	chr13:50368600-50374400	Weak transcription	Placenta	Placenta

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