Variant report

Variant	esv3370339
Chromosome Location	chr13:63496151-63500749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151178991	chr13:63496187-63496188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28673136	chr13:63496235-63496236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74761709	chr13:63496311-63496312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189179240	chr13:63496319-63496320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537955426	chr13:63496492-63496493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74393165	chr13:63496522-63496523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375758240	chr13:63496528-63496529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528529096	chr13:63496542-63496543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368895614	chr13:63496553-63496554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531419266	chr13:63496564-63496565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192457012	chr13:63496623-63496624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540241238	chr13:63496752-63496753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184539253	chr13:63496793-63496794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541846715	chr13:63496804-63496805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140071820	chr13:63496814-63496815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572628694	chr13:63496817-63496818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571260558	chr13:63496857-63496858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372310140	chr13:63496922-63496923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7995571	chr13:63496998-63496999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17334802	chr13:63496999-63497000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs34985690	chr13:63497026-63497027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543546268	chr13:63497029-63497030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11311402	chr13:63497048-63497049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189373005	chr13:63497053-63497054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9539605	chr13:63497098-63497099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547063956	chr13:63497109-63497110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373246984	chr13:63497121-63497122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559630652	chr13:63497168-63497169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535720004	chr13:63497235-63497236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181419186	chr13:63497236-63497237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551217931	chr13:63497263-63497264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569516371	chr13:63497283-63497284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12430198	chr13:63497336-63497337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549901017	chr13:63497337-63497338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9570759	chr13:63497445-63497446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569289482	chr13:63497479-63497480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12428156	chr13:63497503-63497504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373120723	chr13:63497507-63497508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535868997	chr13:63497516-63497517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34972230	chr13:63497600-63497601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146633166	chr13:63497613-63497614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566809485	chr13:63497617-63497618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572371917	chr13:63497660-63497661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558207344	chr13:63497667-63497668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578038820	chr13:63497676-63497677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533813624	chr13:63497696-63497697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540140197	chr13:63497817-63497818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540763414	chr13:63497843-63497844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186361710	chr13:63497900-63497901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17087821	chr13:63497947-63497948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63494000-63502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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