Variant report

Variant	esv2638541
Chromosome Location	chr13:49372767-49374424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49374336..49376781-chr13:49377501..49380255,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563649524	chr13:49372801-49372802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530706881	chr13:49372802-49372803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187276850	chr13:49372823-49372824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546509569	chr13:49372882-49372883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563918186	chr13:49372905-49372906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73484316	chr13:49372972-49372973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564713750	chr13:49372987-49372988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565796815	chr13:49372990-49372991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74074769	chr13:49372994-49372995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34005062	chr13:49373016-49373017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571798428	chr13:49373036-49373037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74074770	chr13:49373102-49373103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570366783	chr13:49373110-49373111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199957951	chr13:49373135-49373136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537327348	chr13:49373158-49373159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117257446	chr13:49373208-49373209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375443582	chr13:49373231-49373232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11841232	chr13:49373243-49373244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370424768	chr13:49373252-49373253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200871372	chr13:49373255-49373256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148343093	chr13:49373259-49373260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574583408	chr13:49373341-49373342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541851734	chr13:49373349-49373350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368790046	chr13:49373362-49373363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183940552	chr13:49373405-49373406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9568093	chr13:49373499-49373500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545802595	chr13:49373539-49373540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147102939	chr13:49373545-49373546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564004688	chr13:49373546-49373547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528281244	chr13:49373548-49373549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546341386	chr13:49373549-49373550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115362506	chr13:49373584-49373585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116840115	chr13:49373617-49373618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117565514	chr13:49373637-49373638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569926937	chr13:49373641-49373642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188275143	chr13:49373654-49373655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201214881	chr13:49373677-49373678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79613118	chr13:49373678-49373679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552917648	chr13:49373715-49373716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180852634	chr13:49373721-49373722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138690375	chr13:49373750-49373751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553597962	chr13:49373817-49373818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142695502	chr13:49373837-49373838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150752346	chr13:49373841-49373842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562286689	chr13:49373857-49373858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556991804	chr13:49373898-49373899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367676952	chr13:49373939-49373940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372225263	chr13:49373940-49373941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564043261	chr13:49373944-49373945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568940672	chr13:49373978-49373979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Chronic lymphocytic leukemia	21670202	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
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
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49366800-49374800	Weak transcription	NHDF-Ad	bronchial
2	chr13:49366800-49383000	Weak transcription	Osteobl	bone
3	chr13:49371400-49374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:49371800-49375600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:49372000-49375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:49372000-49375400	Weak transcription	Muscle Satellite Cultured Cells	--

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