Variant report

Variant	esv3447206
Chromosome Location	chr13:91259151-91262549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91260790..91263429-chr13:91267813..91271403,3	K562	blood:
2	chr13:91256519..91258426-chr13:91261599..91263621,2	K562	blood:
3	chr13:91256256..91258154-chr13:91258437..91261292,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544559820	chr13:91259167-91259168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546552925	chr13:91259235-91259236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571531365	chr13:91259261-91259262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368285125	chr13:91259277-91259278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538413349	chr13:91259288-91259289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550753462	chr13:91259289-91259290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568608328	chr13:91259350-91259351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535981257	chr13:91259352-91259353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554126967	chr13:91259466-91259467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563308917	chr13:91259467-91259468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142333617	chr13:91259475-91259476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553350544	chr13:91259524-91259525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548968484	chr13:91259640-91259641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150867306	chr13:91259669-91259670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376659918	chr13:91259670-91259671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188551346	chr13:91259673-91259674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545270162	chr13:91259680-91259681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111356697	chr13:91259814-91259815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563914947	chr13:91259882-91259883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575795156	chr13:91259886-91259887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543173651	chr13:91259902-91259903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561391425	chr13:91259943-91259944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144712665	chr13:91259962-91259963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138447599	chr13:91260012-91260013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149298359	chr13:91260054-91260055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192788492	chr13:91260070-91260071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550349991	chr13:91260115-91260116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201142072	chr13:91260126-91260127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369825515	chr13:91260127-91260128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568745325	chr13:91260183-91260184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529718441	chr13:91260239-91260240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547852680	chr13:91260260-91260261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36005796	chr13:91260286-91260287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185280271	chr13:91260306-91260307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533509255	chr13:91260324-91260325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558571267	chr13:91260337-91260338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190110319	chr13:91260390-91260391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371958245	chr13:91260391-91260392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376209189	chr13:91260403-91260404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182345173	chr13:91260414-91260415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539355207	chr13:91260437-91260438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574000358	chr13:91260443-91260444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557569072	chr13:91260457-91260458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186488062	chr13:91260548-91260549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543261598	chr13:91260564-91260565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551590302	chr13:91260614-91260615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78220053	chr13:91260625-91260626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571350525	chr13:91260643-91260644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573287432	chr13:91260754-91260755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540263243	chr13:91260772-91260773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Non-syndromic sensorineural hearing loss	18496225	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91258800-91269600	Weak transcription	Right Atrium	heart

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