Variant report

Variant	esv3413302
Chromosome Location	chr13:92683251-92685249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553881219	chr13:92683257-92683258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561994022	chr13:92683297-92683298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375333264	chr13:92683340-92683341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539022484	chr13:92683348-92683349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9589404	chr13:92683366-92683367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576001105	chr13:92683379-92683380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184754435	chr13:92683381-92683382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561679688	chr13:92683403-92683404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114587036	chr13:92683413-92683414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540846542	chr13:92683432-92683433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140141386	chr13:92683561-92683562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543939769	chr13:92683631-92683632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561049938	chr13:92683643-92683644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7985989	chr13:92683645-92683646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546656768	chr13:92683655-92683656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543408904	chr13:92683687-92683688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71200558	chr13:92683724-92683725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560461355	chr13:92683749-92683750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181489003	chr13:92683779-92683780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529311295	chr13:92683784-92683785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184221551	chr13:92683794-92683795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189035673	chr13:92683801-92683802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372260123	chr13:92683805-92683806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528660832	chr13:92683878-92683879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544961651	chr13:92683929-92683930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201724735	chr13:92683934-92683935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575309773	chr13:92683942-92683943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71113783	chr13:92683954-92683955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71218593	chr13:92683955-92683956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71113784	chr13:92683969-92683970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79141159	chr13:92683990-92683991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71113785	chr13:92683994-92683995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9523485	chr13:92684005-92684006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187434517	chr13:92684030-92684031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71447388	chr13:92684032-92684033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28844633	chr13:92684038-92684039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28884778	chr13:92684045-92684046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12323264	chr13:92684058-92684059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7992069	chr13:92684066-92684067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28790955	chr13:92684075-92684076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181001701	chr13:92684086-92684087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546775143	chr13:92684110-92684111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186279215	chr13:92684117-92684118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570515983	chr13:92684302-92684303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12323270	chr13:92684305-92684306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556023249	chr13:92684329-92684330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569614829	chr13:92684358-92684359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190097846	chr13:92684370-92684371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555212562	chr13:92684393-92684394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572027113	chr13:92684424-92684425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Small bowel adenocarcinoma	21586687	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92681800-92684800	Weak transcription	Fetal Lung	lung
2	chr13:92684800-92685800	Enhancers	Fetal Lung	lung

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