Variant report

Variant	esv3435336
Chromosome Location	chr13:63772151-63775749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566001509	chr13:63772427-63772428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181032560	chr13:63772477-63772478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73505797	chr13:63772478-63772479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141896773	chr13:63772491-63772492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534081379	chr13:63772494-63772495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146242447	chr13:63772551-63772552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576772611	chr13:63772589-63772590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543914437	chr13:63772619-63772620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562205231	chr13:63772706-63772707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574198899	chr13:63772767-63772768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549293139	chr13:63772819-63772820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561161848	chr13:63772883-63772884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528712963	chr13:63772884-63772885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540898690	chr13:63772890-63772891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs298871	chr13:63772946-63772947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs368160099	chr13:63772989-63772990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532527833	chr13:63773001-63773002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550705783	chr13:63773003-63773004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371225498	chr13:63773017-63773018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569325390	chr13:63773018-63773019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139256714	chr13:63773027-63773028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113844930	chr13:63773100-63773101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149933725	chr13:63773103-63773104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56726569	chr13:63773144-63773145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs298870	chr13:63773153-63773154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368372809	chr13:63773841-63773842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562884211	chr13:63773862-63773863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530147350	chr13:63773906-63773907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372604076	chr13:63773920-63773921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548701462	chr13:63773969-63773970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567013628	chr13:63773973-63773974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527443759	chr13:63773988-63773989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369611	chr13:63774019-63774020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570699329	chr13:63774030-63774031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537766956	chr13:63774093-63774094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556072899	chr13:63774117-63774118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567695117	chr13:63774160-63774161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538539609	chr13:63774168-63774169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368887761	chr13:63774169-63774170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572054826	chr13:63774220-63774221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9741728	chr13:63774275-63774276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9740114	chr13:63774277-63774278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9741717	chr13:63774283-63774284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9741718	chr13:63774285-63774286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9741719	chr13:63774291-63774292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377528909	chr13:63774293-63774294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201799679	chr13:63774299-63774300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9740127	chr13:63774301-63774302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs430543	chr13:63774303-63774304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372835100	chr13:63774309-63774310	Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63772400-63773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:63772400-63773000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:63772600-63773000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:63772600-63773200	Enhancers	Fetal Lung	lung
5	chr13:63773800-63774600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:63774600-63783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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