Variant report

Variant	nsv510591
Chromosome Location	chr13:63598573-63608412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147500272	chr13:63598591-63598592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183048238	chr13:63598601-63598602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187323184	chr13:63598636-63598637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578101907	chr13:63598691-63598692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545431997	chr13:63598714-63598715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563641834	chr13:63598776-63598777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531124104	chr13:63598838-63598839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548645854	chr13:63598843-63598844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543289331	chr13:63598885-63598886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2780366	chr13:63598906-63598907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528681091	chr13:63598920-63598921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537435684	chr13:63598968-63598969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546329070	chr13:63598995-63598996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371614997	chr13:63599045-63599046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532032595	chr13:63599063-63599064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35062654	chr13:63599155-63599156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140120205	chr13:63599250-63599251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571383753	chr13:63599275-63599276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568801776	chr13:63599276-63599277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536188806	chr13:63599277-63599278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2669331	chr13:63599278-63599279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200682943	chr13:63599289-63599290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118070044	chr13:63599297-63599298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552862270	chr13:63599336-63599337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150871941	chr13:63599360-63599361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534270327	chr13:63599361-63599362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572909172	chr13:63599372-63599373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533983329	chr13:63599373-63599374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558746943	chr13:63599397-63599398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191774372	chr13:63599409-63599410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545480915	chr13:63599434-63599435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535226380	chr13:63599437-63599438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557424106	chr13:63599545-63599546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2780367	chr13:63599547-63599548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145424839	chr13:63599549-63599550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184643894	chr13:63599555-63599556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188934909	chr13:63599575-63599576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540429691	chr13:63599593-63599594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565109163	chr13:63599611-63599612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193120681	chr13:63599660-63599661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550247634	chr13:63599701-63599702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568789886	chr13:63599704-63599705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529692115	chr13:63599718-63599719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185497406	chr13:63599743-63599744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543765319	chr13:63599755-63599756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189203725	chr13:63599920-63599921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115815269	chr13:63599995-63599996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373806392	chr13:63599996-63599997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558798454	chr13:63599997-63599998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570641997	chr13:63600052-63600053	Enhancers Weak transcription Active TSS	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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63597800-63600400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:63598600-63598800	Enhancers	Brain Hippocampus Middle	brain
3	chr13:63598800-63601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:63599000-63600000	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:63599600-63600800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:63600000-63600400	Active TSS	Brain Hippocampus Middle	brain
7	chr13:63600000-63600800	Enhancers	Brain Cingulate Gyrus	brain
8	chr13:63600400-63600600	Enhancers	Brain Anterior Caudate	brain
9	chr13:63600400-63600800	Enhancers	Brain Hippocampus Middle	brain
10	chr13:63600600-63600800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr13:63600600-63600800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:63600600-63600800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:63600600-63600800	Enhancers	Brain Substantia Nigra	brain

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