Variant report

Variant	nsv977371
Chromosome Location	chr13:67355754-67359844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368315898	chr13:67355808-67355809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535764844	chr13:67355829-67355830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144331738	chr13:67355839-67355840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572015832	chr13:67355847-67355848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552768497	chr13:67355854-67355855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557783481	chr13:67355872-67355873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9540911	chr13:67355886-67355887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543525884	chr13:67355913-67355914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377242087	chr13:67355918-67355919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563932927	chr13:67355922-67355923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148772307	chr13:67355938-67355939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376623076	chr13:67355943-67355944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35254607	chr13:67356018-67356019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67858833	chr13:67356019-67356020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3042287	chr13:67356021-67356022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111878576	chr13:67356022-67356023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183704887	chr13:67356058-67356059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559751359	chr13:67356067-67356068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9540912	chr13:67356095-67356096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34936581	chr13:67356151-67356152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142431035	chr13:67356158-67356159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551405633	chr13:67356160-67356161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113523162	chr13:67356162-67356163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530939942	chr13:67356192-67356193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550770861	chr13:67356193-67356194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139003814	chr13:67356321-67356322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535253969	chr13:67356333-67356334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74093604	chr13:67356347-67356348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373785623	chr13:67356368-67356369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77856437	chr13:67356483-67356484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557818231	chr13:67356511-67356512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569149773	chr13:67356575-67356576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9564350	chr13:67356584-67356585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556745238	chr13:67356592-67356593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377492158	chr13:67356666-67356667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574182126	chr13:67356675-67356676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554681579	chr13:67356704-67356705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542902030	chr13:67356729-67356730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7994100	chr13:67356731-67356732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534038255	chr13:67356736-67356737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528797017	chr13:67356737-67356738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9540913	chr13:67356751-67356752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564960627	chr13:67356752-67356753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539265491	chr13:67356759-67356760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111424752	chr13:67356763-67356764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189312540	chr13:67356782-67356783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180987124	chr13:67356809-67356810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530207408	chr13:67356810-67356811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542785062	chr13:67356883-67356884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576929683	chr13:67356927-67356928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67346200-67368400	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67354400-67355800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:67354600-67355800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:67354800-67355800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:67355200-67356600	Weak transcription	Fetal Brain Female	brain
6	chr13:67355400-67355800	Enhancers	HSMMtube	muscle
7	chr13:67355600-67374000	Weak transcription	HSMM	muscle
8	chr13:67355800-67357000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:67356800-67357000	Enhancers	Fetal Brain Female	brain
10	chr13:67357200-67357400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:67357200-67357600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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