Variant report

Variant	nsv528416
Chromosome Location	chr13:67382798-67392298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 98 )

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	rs17081895	chr13:67382798-67382799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534269419	chr13:67382808-67382809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546491604	chr13:67382879-67382880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566290525	chr13:67382885-67382886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543780538	chr13:67382931-67382932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536629437	chr13:67382963-67382964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7139567	chr13:67382987-67382988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575177844	chr13:67382995-67382996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9599147	chr13:67383110-67383111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554525964	chr13:67383113-67383114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9599148	chr13:67383119-67383120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9592487	chr13:67383124-67383125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563569994	chr13:67383135-67383136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143705221	chr13:67383149-67383150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368474314	chr13:67383152-67383153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151287657	chr13:67383153-67383154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370973841	chr13:67383165-67383166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9599149	chr13:67383173-67383174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563215630	chr13:67383197-67383198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532018343	chr13:67383217-67383218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548321422	chr13:67383236-67383237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562078594	chr13:67383237-67383238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180875865	chr13:67383300-67383301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547821803	chr13:67383305-67383306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538162217	chr13:67383369-67383370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556799152	chr13:67383371-67383372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113906778	chr13:67383416-67383417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542601378	chr13:67383439-67383440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568838058	chr13:67383450-67383451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150472932	chr13:67383461-67383462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138317795	chr13:67383496-67383497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117593098	chr13:67383513-67383514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186062484	chr13:67383570-67383571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142659921	chr13:67383576-67383577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540305228	chr13:67383620-67383621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565093484	chr13:67383647-67383648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114296142	chr13:67383679-67383680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190968555	chr13:67383693-67383694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115340835	chr13:67383705-67383706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145767493	chr13:67383719-67383720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7322354	chr13:67383736-67383737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562799417	chr13:67383744-67383745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116305275	chr13:67383749-67383750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541014217	chr13:67383751-67383752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57325770	chr13:67383758-67383759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144092350	chr13:67383760-67383761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138691406	chr13:67383777-67383778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551973854	chr13:67383796-67383797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530079895	chr13:67383809-67383810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569001035	chr13:67383905-67383906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67375800-67383600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:67380800-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:67380800-67384000	Weak transcription	Fetal Lung	lung
4	chr13:67381200-67383400	Weak transcription	Brain Anterior Caudate	brain
5	chr13:67381200-67383600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:67381400-67383400	Weak transcription	Brain Substantia Nigra	brain
7	chr13:67383400-67383800	Enhancers	Brain Substantia Nigra	brain
8	chr13:67383400-67384000	Enhancers	Brain Anterior Caudate	brain
9	chr13:67383600-67383800	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:67383600-67383800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr13:67383600-67384000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:67383600-67384000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:67384000-67384200	Enhancers	Fetal Lung	lung

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