Variant report

Variant	esv3436017
Chromosome Location	chr13:38606152-38607400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76950409	chr13:38606216-38606217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147202308	chr13:38606224-38606225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75847991	chr13:38606318-38606319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561675919	chr13:38606320-38606321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527467986	chr13:38606331-38606332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547292715	chr13:38606404-38606405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570899246	chr13:38606427-38606428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539554828	chr13:38606479-38606480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201311558	chr13:38606499-38606500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28564695	chr13:38606503-38606504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371466547	chr13:38606505-38606506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9603312	chr13:38606507-38606508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57395115	chr13:38606515-38606516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550109478	chr13:38606522-38606523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552644819	chr13:38606567-38606568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569945415	chr13:38606595-38606596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186768614	chr13:38606684-38606685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572605651	chr13:38606780-38606781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549847184	chr13:38606785-38606786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569548845	chr13:38606807-38606808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538571496	chr13:38606874-38606875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112191885	chr13:38606906-38606907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535202214	chr13:38606924-38606925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558071333	chr13:38606936-38606937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576830118	chr13:38606938-38606939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558865760	chr13:38606950-38606951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140480116	chr13:38606957-38606958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35140422	chr13:38606988-38606989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs59700122	chr13:38607026-38607027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373236165	chr13:38607036-38607037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9548160	chr13:38607080-38607081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192698147	chr13:38607106-38607107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370520987	chr13:38607119-38607120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142150056	chr13:38607163-38607164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554249956	chr13:38607187-38607188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533195931	chr13:38607197-38607198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549983106	chr13:38607252-38607253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183907208	chr13:38607254-38607255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376498403	chr13:38607270-38607271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151225718	chr13:38607284-38607285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374583798	chr13:38607333-38607334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538586304	chr13:38607346-38607347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140358040	chr13:38607365-38607366	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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