Variant report

Variant	esv3431659
Chromosome Location	chr13:63773451-63775399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368372809	chr13:63773841-63773842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562884211	chr13:63773862-63773863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530147350	chr13:63773906-63773907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372604076	chr13:63773920-63773921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548701462	chr13:63773969-63773970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567013628	chr13:63773973-63773974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527443759	chr13:63773988-63773989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369611	chr13:63774019-63774020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570699329	chr13:63774030-63774031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537766956	chr13:63774093-63774094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556072899	chr13:63774117-63774118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567695117	chr13:63774160-63774161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538539609	chr13:63774168-63774169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368887761	chr13:63774169-63774170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572054826	chr13:63774220-63774221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9741728	chr13:63774275-63774276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9740114	chr13:63774277-63774278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9741717	chr13:63774283-63774284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9741718	chr13:63774285-63774286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9741719	chr13:63774291-63774292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377528909	chr13:63774293-63774294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201799679	chr13:63774299-63774300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9740127	chr13:63774301-63774302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs430543	chr13:63774303-63774304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372835100	chr13:63774309-63774310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376252747	chr13:63774310-63774311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201116665	chr13:63774311-63774312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201552764	chr13:63774313-63774314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9740128	chr13:63774315-63774316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540771939	chr13:63774317-63774318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190338467	chr13:63774323-63774324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71102418	chr13:63774333-63774334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199520937	chr13:63774336-63774337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35005913	chr13:63774338-63774339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs509559	chr13:63774339-63774340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374357082	chr13:63774340-63774341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186140901	chr13:63774418-63774419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540450662	chr13:63774530-63774531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148645452	chr13:63774621-63774622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544902765	chr13:63774718-63774719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374027268	chr13:63774738-63774739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560295508	chr13:63774777-63774778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563223885	chr13:63774823-63774824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574879352	chr13:63774834-63774835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542256121	chr13:63774956-63774957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573846717	chr13:63774960-63774961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560587977	chr13:63774970-63774971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114233111	chr13:63775013-63775014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369237014	chr13:63775036-63775037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35693543	chr13:63775038-63775039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63773800-63774600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:63774600-63783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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