Variant report

Variant	esv3395634
Chromosome Location	chr13:87339851-87343249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180986892	chr13:87339921-87339922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535790334	chr13:87339976-87339977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547715288	chr13:87339991-87339992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376971909	chr13:87340003-87340004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141666991	chr13:87340045-87340046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554755814	chr13:87340149-87340150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78422887	chr13:87340195-87340196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113033811	chr13:87340199-87340200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547883139	chr13:87340269-87340270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373307455	chr13:87340295-87340296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186359069	chr13:87340298-87340299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576084041	chr13:87340357-87340358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537648961	chr13:87340392-87340393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553700937	chr13:87340406-87340407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555580079	chr13:87340454-87340455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573904680	chr13:87340467-87340468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9588941	chr13:87340468-87340469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559642738	chr13:87340476-87340477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577581310	chr13:87340557-87340558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545106865	chr13:87340621-87340622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563783722	chr13:87340625-87340626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2996397	chr13:87340656-87340657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372944233	chr13:87340662-87340663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3015536	chr13:87340701-87340702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557458308	chr13:87340728-87340729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561827083	chr13:87340738-87340739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376158522	chr13:87340759-87340760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529121465	chr13:87340774-87340775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190913840	chr13:87340776-87340777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536667396	chr13:87340797-87340798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368641186	chr13:87340827-87340828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184103386	chr13:87340864-87340865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186559524	chr13:87340869-87340870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3015537	chr13:87340918-87340919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192082773	chr13:87340920-87340921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562358899	chr13:87340926-87340927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74343618	chr13:87340950-87340951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182971269	chr13:87340951-87340952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567493450	chr13:87340959-87340960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373772223	chr13:87340981-87340982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9588943	chr13:87340982-87340983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555088763	chr13:87340998-87340999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11839507	chr13:87341004-87341005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs578209542	chr13:87341006-87341007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545385194	chr13:87341041-87341042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557118679	chr13:87341072-87341073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575605740	chr13:87341104-87341105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542724480	chr13:87341105-87341106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61252098	chr13:87341118-87341119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188411022	chr13:87341122-87341123	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87339600-87340000	Enhancers	Fetal Lung	lung
2	chr13:87340000-87341800	Weak transcription	Fetal Lung	lung
3	chr13:87341800-87342200	Enhancers	Fetal Lung	lung

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