Variant report

Variant	esv3410479
Chromosome Location	chr13:96799727-96800215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143047905	chr13:96799729-96799730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544932954	chr13:96799736-96799737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs649322	chr13:96799786-96799787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369999661	chr13:96799795-96799796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575140958	chr13:96799823-96799824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538598910	chr13:96799826-96799827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182120336	chr13:96799849-96799850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561095317	chr13:96799861-96799862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76350822	chr13:96799877-96799878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549427827	chr13:96799889-96799890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75290763	chr13:96799943-96799944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186801312	chr13:96799944-96799945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552142319	chr13:96799948-96799949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138579761	chr13:96799970-96799971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565770648	chr13:96800024-96800025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373348066	chr13:96800031-96800032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564097976	chr13:96800032-96800033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550905745	chr13:96800098-96800099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567814043	chr13:96800111-96800112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535987908	chr13:96800113-96800114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116299716	chr13:96800191-96800192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572541958	chr13:96800200-96800201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375238210	chr13:96800201-96800202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96796600-96809000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:96799800-96800000	Enhancers	Pancreas	Pancrea
3	chr13:96800000-96816400	Weak transcription	Pancreas	Pancrea

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