Variant report

Variant	esv3342202
Chromosome Location	chr13:65324601-65325699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78230696	chr13:65324615-65324616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76404256	chr13:65324616-65324617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578081757	chr13:65324623-65324624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199890061	chr13:65324630-65324631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73198484	chr13:65324634-65324635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544754348	chr13:65324681-65324682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561316119	chr13:65324698-65324699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530367844	chr13:65324723-65324724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538577234	chr13:65324796-65324797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11419455	chr13:65324797-65324798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12874262	chr13:65324829-65324830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540503702	chr13:65324831-65324832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560449271	chr13:65324861-65324862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528043743	chr13:65324985-65324986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200809549	chr13:65324998-65324999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200124662	chr13:65325001-65325002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201889205	chr13:65325008-65325009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201981933	chr13:65325012-65325013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8000866	chr13:65325016-65325017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376689449	chr13:65325047-65325048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550984282	chr13:65325064-65325065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375882907	chr13:65325065-65325066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374211532	chr13:65325095-65325096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57949704	chr13:65325097-65325098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398023119	chr13:65325105-65325106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571273041	chr13:65325216-65325217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530529461	chr13:65325223-65325224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150861912	chr13:65325227-65325228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8001295	chr13:65325291-65325292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372825289	chr13:65325294-65325295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1826792	chr13:65325303-65325304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546899041	chr13:65325324-65325325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566785462	chr13:65325328-65325329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538990444	chr13:65325329-65325330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558692678	chr13:65325355-65325356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575636491	chr13:65325357-65325358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7492007	chr13:65325437-65325438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537952568	chr13:65325494-65325495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139297811	chr13:65325517-65325518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574920831	chr13:65325537-65325538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540443596	chr13:65325569-65325570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560386132	chr13:65325573-65325574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4581590	chr13:65325581-65325582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75755579	chr13:65325613-65325614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544563516	chr13:65325615-65325616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564716149	chr13:65325678-65325679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530573401	chr13:65325694-65325695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550379795	chr13:65325695-65325696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65314800-65333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:65324000-65327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:65324400-65330600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:65324600-65332400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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