Variant report

Variant	nsv974204
Chromosome Location	chr13:54040264-54044833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 112 )

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	rs538037505	chr13:54040278-54040279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151028153	chr13:54040330-54040331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578196758	chr13:54040347-54040348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185366939	chr13:54040377-54040378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554174423	chr13:54040397-54040398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574063220	chr13:54040466-54040467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1348466	chr13:54040483-54040484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34513306	chr13:54040520-54040521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375935022	chr13:54040557-54040558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141111080	chr13:54040591-54040592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544399663	chr13:54040617-54040618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564098186	chr13:54040625-54040626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74887311	chr13:54040663-54040664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546562807	chr13:54040709-54040710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150278825	chr13:54040721-54040722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368813265	chr13:54040731-54040732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548708257	chr13:54040744-54040745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376879187	chr13:54040761-54040762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551672257	chr13:54040794-54040795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139337155	chr13:54040845-54040846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141799426	chr13:54040921-54040922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551159235	chr13:54040977-54040978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551971387	chr13:54040989-54040990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571734537	chr13:54041058-54041059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534641179	chr13:54041084-54041085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189486931	chr13:54041378-54041379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180730164	chr13:54041380-54041381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184967709	chr13:54041460-54041461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188781316	chr13:54041475-54041476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181202691	chr13:54041493-54041494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75251666	chr13:54041515-54041516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545139234	chr13:54041630-54041631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1017539	chr13:54041666-54041667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12431276	chr13:54041846-54041847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577740423	chr13:54041855-54041856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186250009	chr13:54041879-54041880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567291614	chr13:54041880-54041881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190627472	chr13:54041892-54041893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560004557	chr13:54041906-54041907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529110123	chr13:54041913-54041914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547177809	chr13:54041930-54041931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542216394	chr13:54041937-54041938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138730772	chr13:54041938-54041939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531449202	chr13:54041988-54041989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567255098	chr13:54042018-54042019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182407267	chr13:54042037-54042038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374631682	chr13:54042083-54042084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571858219	chr13:54042095-54042096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534684020	chr13:54042096-54042097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536117817	chr13:54042103-54042104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54037800-54047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:54040400-54041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:54040600-54041000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:54041000-54044800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:54041000-54045800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:54044800-54050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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