Variant report

Variant	esv2577501
Chromosome Location	chr13:63655980-63657772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555963271	chr13:63656000-63656001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189587005	chr13:63656025-63656026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527669792	chr13:63656044-63656045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536423068	chr13:63656076-63656077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555613117	chr13:63656133-63656134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368203725	chr13:63656194-63656195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371892465	chr13:63656195-63656196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574068596	chr13:63656204-63656205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541073153	chr13:63656219-63656220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552951596	chr13:63656239-63656240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560397434	chr13:63656242-63656243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372963533	chr13:63656246-63656247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577240351	chr13:63656251-63656252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575884770	chr13:63656291-63656292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4309280	chr13:63656329-63656330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113174990	chr13:63656424-63656425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370096549	chr13:63656430-63656431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201387897	chr13:63656510-63656511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577574982	chr13:63656533-63656534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369833871	chr13:63656553-63656554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545311398	chr13:63656631-63656632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563979634	chr13:63656661-63656662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374426073	chr13:63656679-63656680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575777801	chr13:63656709-63656710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543191162	chr13:63656735-63656736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186025790	chr13:63656746-63656747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528193161	chr13:63656766-63656767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189348658	chr13:63656784-63656785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144432657	chr13:63656856-63656857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181292936	chr13:63656868-63656869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557959935	chr13:63656911-63656912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186341916	chr13:63656943-63656944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111573215	chr13:63656996-63656997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536096193	chr13:63657018-63657019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1606432	chr13:63657041-63657042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540213456	chr13:63657053-63657054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560035928	chr13:63657072-63657073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573562982	chr13:63657073-63657074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139132811	chr13:63657080-63657081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143054030	chr13:63657084-63657085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577637016	chr13:63657141-63657142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78262898	chr13:63657151-63657152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542495743	chr13:63657167-63657168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539001831	chr13:63657190-63657191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1118232	chr13:63657191-63657192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146138872	chr13:63657237-63657238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140186189	chr13:63657284-63657285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143764201	chr13:63657333-63657334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116992133	chr13:63657335-63657336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151305623	chr13:63657360-63657361	Weak transcription	n/a	n/a	Overlapped CNVs	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	chr13:63651800-63657400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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