Variant report

Variant	esv3440507
Chromosome Location	chr13:38609252-38611500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9603313	chr13:38609255-38609256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545027690	chr13:38609372-38609373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532390206	chr13:38609458-38609459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186870658	chr13:38609459-38609460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565293291	chr13:38609474-38609475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541367318	chr13:38609537-38609538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75573060	chr13:38609539-38609540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149195844	chr13:38609567-38609568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371728214	chr13:38609571-38609572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561276768	chr13:38609594-38609595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530195399	chr13:38609613-38609614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143321343	chr13:38609614-38609615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565589663	chr13:38609617-38609618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534722651	chr13:38609629-38609630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575987061	chr13:38609635-38609636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139894543	chr13:38609656-38609657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398022390	chr13:38609657-38609658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551227144	chr13:38609773-38609774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571217689	chr13:38609786-38609787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537071507	chr13:38609814-38609815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557277855	chr13:38609835-38609836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115200962	chr13:38609885-38609886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148000913	chr13:38609915-38609916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536424549	chr13:38609937-38609938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201417913	chr13:38609972-38609973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78496720	chr13:38609979-38609980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67924307	chr13:38609980-38609981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9548161	chr13:38609983-38609984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373389534	chr13:38609986-38609987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375267099	chr13:38609989-38609990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530676073	chr13:38610014-38610015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190417078	chr13:38610019-38610020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148377838	chr13:38610022-38610023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545477714	chr13:38610023-38610024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377253756	chr13:38610031-38610032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10663548	chr13:38610032-38610033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386378851	chr13:38610037-38610038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398070271	chr13:38610040-38610041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373232470	chr13:38610047-38610048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150922213	chr13:38610055-38610056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10663549	chr13:38610060-38610061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113135120	chr13:38610089-38610090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200852990	chr13:38610093-38610094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199963578	chr13:38610094-38610095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202070160	chr13:38610096-38610097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200082710	chr13:38610099-38610100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66556826	chr13:38610100-38610101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398070272	chr13:38610109-38610110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12871914	chr13:38610110-38610111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12872950	chr13:38610116-38610117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38604200-38619200	Weak transcription	Pancreas	Pancrea
2	chr13:38606400-38621400	Weak transcription	Right Ventricle	heart

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