Variant report

Variant	nsv528594
Chromosome Location	chr13:61587015-61593886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 275 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9539003	chr13:61587015-61587016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187585050	chr13:61587018-61587019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9539004	chr13:61587049-61587050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548531040	chr13:61587162-61587163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528299591	chr13:61587175-61587176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374890565	chr13:61587182-61587183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546669877	chr13:61587200-61587201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571293714	chr13:61587226-61587227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191287832	chr13:61587246-61587247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10583414	chr13:61587287-61587288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398056457	chr13:61587290-61587291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550115153	chr13:61587339-61587340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568537143	chr13:61587352-61587353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182390626	chr13:61587353-61587354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535984993	chr13:61587369-61587370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554877057	chr13:61587431-61587432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367560579	chr13:61587444-61587445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370921701	chr13:61587481-61587482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150522013	chr13:61587495-61587496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534175792	chr13:61587521-61587522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559114263	chr13:61587531-61587532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187065671	chr13:61587576-61587577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544738936	chr13:61587577-61587578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139977457	chr13:61587588-61587589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570301645	chr13:61587701-61587702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149439329	chr13:61587702-61587703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114301613	chr13:61587704-61587705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7989616	chr13:61587706-61587707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191963296	chr13:61587716-61587717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185070786	chr13:61587725-61587726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565094391	chr13:61587770-61587771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9539005	chr13:61587796-61587797	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9539006	chr13:61587853-61587854	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144773229	chr13:61587873-61587874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555326247	chr13:61587882-61587883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139716152	chr13:61587908-61587909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548861186	chr13:61587937-61587938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76873232	chr13:61587955-61587956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79840406	chr13:61587957-61587958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144630356	chr13:61587959-61587960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78683150	chr13:61587960-61587961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67094423	chr13:61587961-61587962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60405368	chr13:61587962-61587963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75961397	chr13:61587963-61587964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144255734	chr13:61587985-61587986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528893954	chr13:61588000-61588001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34987489	chr13:61588031-61588032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557846966	chr13:61588058-61588059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76718174	chr13:61588059-61588060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35258988	chr13:61588087-61588088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61584800-61602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:61587400-61589000	Enhancers	Fetal Heart	heart
3	chr13:61587600-61589000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:61587800-61589000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:61588000-61589200	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:61588800-61589400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:61588800-61589400	Enhancers	Brain Substantia Nigra	brain
8	chr13:61589000-61591600	Weak transcription	Fetal Heart	heart
9	chr13:61593600-61595400	Weak transcription	Fetal Heart	heart

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