Variant report

Variant	esv10731
Chromosome Location	chr13:55513571-55515456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184882350	chr13:55513593-55513594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576968737	chr13:55513610-55513611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545581730	chr13:55513632-55513633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564830030	chr13:55513654-55513655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562325253	chr13:55513662-55513663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559444979	chr13:55513664-55513665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572235802	chr13:55513671-55513672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76139081	chr13:55513675-55513676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561185106	chr13:55513682-55513683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529990140	chr13:55513739-55513740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145356394	chr13:55513741-55513742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541843253	chr13:55513753-55513754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189690171	chr13:55513758-55513759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561811823	chr13:55513760-55513761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147659462	chr13:55513772-55513773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142656991	chr13:55513795-55513796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551897824	chr13:55513796-55513797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571627632	chr13:55513798-55513799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116044111	chr13:55513828-55513829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547639566	chr13:55513836-55513837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111273819	chr13:55513900-55513901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536498517	chr13:55513912-55513913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182330595	chr13:55513943-55513944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1979351	chr13:55513959-55513960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550321487	chr13:55513987-55513988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370971888	chr13:55514033-55514034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7317573	chr13:55514043-55514044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558655915	chr13:55514071-55514072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572013456	chr13:55514075-55514076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187696497	chr13:55514083-55514084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146899449	chr13:55514119-55514120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367604190	chr13:55514141-55514142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574794849	chr13:55514164-55514165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75924517	chr13:55514246-55514247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563571377	chr13:55514253-55514254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377499915	chr13:55514296-55514297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531759058	chr13:55514312-55514313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71439544	chr13:55514320-55514321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565393402	chr13:55514381-55514382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190996059	chr13:55514407-55514408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151310262	chr13:55514438-55514439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545346803	chr13:55514554-55514555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370363776	chr13:55514571-55514572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4885515	chr13:55514582-55514583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140548723	chr13:55514585-55514586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534689083	chr13:55514634-55514635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548588494	chr13:55514645-55514646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550104802	chr13:55514655-55514656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4885516	chr13:55514672-55514673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183316282	chr13:55514678-55514679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	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
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55509000-55520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:55509200-55519000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:55509400-55519600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:55511200-55519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:55515400-55515600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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