Variant report

Variant	esv3351026
Chromosome Location	chr13:76886701-76888799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9544245	chr13:76886721-76886722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1146886	chr13:76886727-76886728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530955563	chr13:76886748-76886749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1146887	chr13:76886771-76886772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531825453	chr13:76886798-76886799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563973820	chr13:76886806-76886807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369158833	chr13:76886832-76886833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528338441	chr13:76886839-76886840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546893813	chr13:76886847-76886848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567917433	chr13:76886851-76886852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145447112	chr13:76886868-76886869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371501071	chr13:76886869-76886870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10665911	chr13:76886896-76886897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370075867	chr13:76886897-76886898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529619797	chr13:76886903-76886904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373494921	chr13:76886907-76886908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550327970	chr13:76887020-76887021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183826269	chr13:76887043-76887044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77305563	chr13:76887103-76887104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115138334	chr13:76887105-76887106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75947120	chr13:76887119-76887120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559182341	chr13:76887187-76887188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117931462	chr13:76887222-76887223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534981135	chr13:76887229-76887230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369501665	chr13:76887236-76887237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139581833	chr13:76887255-76887256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575069512	chr13:76887388-76887389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528387590	chr13:76887400-76887401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542201174	chr13:76887412-76887413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542760700	chr13:76887425-76887426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556964263	chr13:76887431-76887432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187078548	chr13:76887438-76887439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545907752	chr13:76887469-76887470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191175128	chr13:76887470-76887471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563909964	chr13:76887472-76887473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528294051	chr13:76887482-76887483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17066056	chr13:76887518-76887519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10655914	chr13:76887581-76887582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200947043	chr13:76887583-76887584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370844518	chr13:76887584-76887585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1700828	chr13:76887585-76887586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12858926	chr13:76887624-76887625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12858928	chr13:76887626-76887627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529221118	chr13:76887630-76887631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12858973	chr13:76887653-76887654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17066058	chr13:76887659-76887660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1146888	chr13:76887683-76887684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs184393741	chr13:76887685-76887686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533027447	chr13:76887747-76887748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189320523	chr13:76887763-76887764	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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76883200-76891200	Weak transcription	Fetal Heart	heart

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