Variant report

Variant	esv3418238
Chromosome Location	chr13:63971751-63975449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7993158	chr13:63971752-63971753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544167901	chr13:63971769-63971770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368814192	chr13:63971792-63971793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147996974	chr13:63971800-63971801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73205469	chr13:63971805-63971806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184743940	chr13:63971899-63971900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566007369	chr13:63971902-63971903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534389185	chr13:63971906-63971907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533490593	chr13:63971918-63971919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188595716	chr13:63971939-63971940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551116849	chr13:63971986-63971987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539324819	chr13:63971997-63971998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201478567	chr13:63971999-63972000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192760092	chr13:63972028-63972029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143422123	chr13:63972042-63972043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184169889	chr13:63972091-63972092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534429160	chr13:63972120-63972121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35261179	chr13:63972140-63972141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189367116	chr13:63972220-63972221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181427194	chr13:63972253-63972254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552953070	chr13:63972283-63972284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577618310	chr13:63972311-63972312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184135833	chr13:63972314-63972315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532447372	chr13:63972330-63972331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549219649	chr13:63972379-63972380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189106074	chr13:63972440-63972441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576757762	chr13:63972472-63972473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181439566	chr13:63972473-63972474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562280167	chr13:63972488-63972489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574292343	chr13:63972504-63972505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74086583	chr13:63972533-63972534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187505187	chr13:63972537-63972538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533215543	chr13:63972617-63972618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551502522	chr13:63972621-63972622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11838728	chr13:63972693-63972694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530650220	chr13:63972733-63972734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75237368	chr13:63972744-63972745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116679648	chr13:63972752-63972753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117994854	chr13:63972771-63972772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112746175	chr13:63972789-63972790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1340487	chr13:63972811-63972812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556578511	chr13:63972830-63972831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138649299	chr13:63973012-63973013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557120459	chr13:63973014-63973015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576694685	chr13:63973025-63973026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537609067	chr13:63973070-63973071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555950155	chr13:63973170-63973171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574206264	chr13:63973231-63973232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74086584	chr13:63973256-63973257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559480677	chr13:63973260-63973261	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63971200-63978200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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