Variant report

Variant	nsv983519
Chromosome Location	chr13:62384475-62408937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568440290	chr13:62384479-62384480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528852320	chr13:62384517-62384518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368559691	chr13:62384526-62384527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565349698	chr13:62384541-62384542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148789567	chr13:62384582-62384583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199916353	chr13:62384596-62384597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185357221	chr13:62384600-62384601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533384819	chr13:62384611-62384612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189381048	chr13:62384628-62384629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569717589	chr13:62384709-62384710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143877221	chr13:62384710-62384711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546712309	chr13:62384723-62384724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371026289	chr13:62384736-62384737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574030983	chr13:62384778-62384779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541342513	chr13:62384791-62384792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554162418	chr13:62384811-62384812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146402872	chr13:62384813-62384814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545941770	chr13:62384843-62384844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113218536	chr13:62384936-62384937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375039820	chr13:62384947-62384948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75043116	chr13:62384981-62384982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535796760	chr13:62384993-62384994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192628623	chr13:62385063-62385064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184978361	chr13:62385070-62385071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549154262	chr13:62385077-62385078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188097432	chr13:62385180-62385181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529507193	chr13:62385186-62385187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139681130	chr13:62385197-62385198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565311026	chr13:62385203-62385204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116247703	chr13:62385211-62385212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144405291	chr13:62385226-62385227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569761186	chr13:62385240-62385241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118057139	chr13:62385292-62385293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549158306	chr13:62385323-62385324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567472095	chr13:62385325-62385326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534885748	chr13:62385342-62385343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553318417	chr13:62385398-62385399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112885117	chr13:62385443-62385444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375579200	chr13:62385445-62385446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151052760	chr13:62385446-62385447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576519627	chr13:62385515-62385516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543521676	chr13:62385537-62385538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561901929	chr13:62385542-62385543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573920702	chr13:62385550-62385551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541293292	chr13:62385583-62385584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559654970	chr13:62385623-62385624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79827375	chr13:62385646-62385647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577695707	chr13:62385658-62385659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141000344	chr13:62385664-62385665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533764342	chr13:62385667-62385668	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62384200-62384800	Enhancers	Brain Substantia Nigra	brain
2	chr13:62384400-62385800	Enhancers	Brain Germinal Matrix	brain
3	chr13:62384600-62384800	Enhancers	Brain Hippocampus Middle	brain
4	chr13:62384600-62385400	Enhancers	Brain Angular Gyrus	brain
5	chr13:62384800-62385400	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:62385400-62386200	Enhancers	Brain Hippocampus Middle	brain
7	chr13:62387600-62388000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:62391000-62391400	Enhancers	Fetal Muscle Leg	muscle
9	chr13:62391400-62392200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:62404600-62405600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:62404800-62405400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:62405000-62405200	Enhancers	Fetal Brain Male	brain

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