Variant report

Variant	nsv520663
Chromosome Location	chr13:29515875-29557614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:29548274..29551025-chr13:29553066..29555528,2	MCF-7	breast:
2	chr13:29548274..29551025-chr13:29553066..29555528,2	MCF-7	breast:

Extended variants
information (count: 1682 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1682 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189009	chr13:29515875-29515876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192696959	chr13:29515926-29515927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147452051	chr13:29515927-29515928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557125086	chr13:29515932-29515933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35360216	chr13:29515979-29515980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548326761	chr13:29515982-29515983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139691362	chr13:29515992-29515993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377344953	chr13:29515993-29515994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577248587	chr13:29515998-29515999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572612171	chr13:29516001-29516002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559560087	chr13:29516020-29516021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183471862	chr13:29516022-29516023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370937999	chr13:29516026-29516027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71433292	chr13:29516067-29516068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561952091	chr13:29516142-29516143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138427808	chr13:29516253-29516254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149586873	chr13:29516259-29516260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563960263	chr13:29516267-29516268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533011827	chr13:29516270-29516271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368532167	chr13:29516278-29516279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188202989	chr13:29516346-29516347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181086609	chr13:29516375-29516376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548417401	chr13:29516376-29516377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs327124	chr13:29516401-29516402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186461179	chr13:29516407-29516408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557310767	chr13:29516410-29516411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141352071	chr13:29516412-29516413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577188153	chr13:29516414-29516415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539893398	chr13:29516416-29516417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553510189	chr13:29516426-29516427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571290512	chr13:29516431-29516432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573413321	chr13:29516500-29516501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542042194	chr13:29516526-29516527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561762526	chr13:29516569-29516570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376760690	chr13:29516592-29516593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144364120	chr13:29516593-29516594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544193953	chr13:29516618-29516619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375905764	chr13:29516624-29516625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564081804	chr13:29516668-29516669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532793733	chr13:29516677-29516678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539900598	chr13:29516682-29516683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559806594	chr13:29516768-29516769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116500988	chr13:29516771-29516772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148771342	chr13:29516791-29516792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368896885	chr13:29516800-29516801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116021766	chr13:29516840-29516841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142382292	chr13:29516854-29516855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557106061	chr13:29516897-29516898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553994936	chr13:29516923-29516924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146398443	chr13:29516952-29516953	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29510800-29516800	Weak transcription	Left Ventricle	heart
2	chr13:29513600-29516400	Weak transcription	Fetal Heart	heart
3	chr13:29514400-29516000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:29514400-29516600	Weak transcription	Aorta	Aorta
5	chr13:29516000-29516200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr13:29516200-29516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:29516400-29518000	Enhancers	Fetal Heart	heart
8	chr13:29516600-29517000	Enhancers	Aorta	Aorta
9	chr13:29516600-29517600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:29516800-29518000	Enhancers	Left Ventricle	heart
11	chr13:29517000-29520400	Weak transcription	Aorta	Aorta
12	chr13:29517600-29517800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:29518000-29519600	Weak transcription	Fetal Heart	heart
14	chr13:29519600-29523200	Enhancers	Fetal Heart	heart
15	chr13:29520400-29520600	Enhancers	Aorta	Aorta
16	chr13:29520600-29531000	Weak transcription	Aorta	Aorta
17	chr13:29523200-29526200	Weak transcription	Fetal Heart	heart
18	chr13:29526200-29527800	Enhancers	Fetal Heart	heart
19	chr13:29527800-29528000	Flanking Active TSS	Fetal Heart	heart
20	chr13:29528000-29528400	Enhancers	Fetal Heart	heart
21	chr13:29528400-29529200	Flanking Active TSS	Fetal Heart	heart
22	chr13:29528400-29530200	Enhancers	Liver	Liver
23	chr13:29528600-29528800	Enhancers	Right Ventricle	heart
24	chr13:29528600-29529000	Enhancers	Right Atrium	heart
25	chr13:29528800-29531000	Enhancers	Left Ventricle	heart
26	chr13:29529000-29530800	Weak transcription	Right Ventricle	heart
27	chr13:29529000-29537800	Weak transcription	Right Atrium	heart
28	chr13:29529200-29534600	Enhancers	Fetal Heart	heart
29	chr13:29529400-29529800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr13:29530800-29531200	Enhancers	Right Ventricle	heart
31	chr13:29531000-29531200	ZNF genes & repeats	Aorta	Aorta
32	chr13:29531000-29531400	Weak transcription	Left Ventricle	heart
33	chr13:29531200-29533200	Weak transcription	Right Ventricle	heart
34	chr13:29531200-29533400	Weak transcription	Aorta	Aorta
35	chr13:29532000-29532800	Enhancers	Fetal Muscle Leg	muscle
36	chr13:29533200-29533600	Enhancers	Right Ventricle	heart
37	chr13:29533400-29533600	Enhancers	Left Ventricle	heart
38	chr13:29533400-29534000	ZNF genes & repeats	Aorta	Aorta
39	chr13:29533600-29537800	Weak transcription	Left Ventricle	heart
40	chr13:29534000-29537600	Weak transcription	Aorta	Aorta
41	chr13:29534600-29536800	Weak transcription	Fetal Heart	heart
42	chr13:29536600-29537000	Enhancers	Dnd41	blood
43	chr13:29536800-29537600	Enhancers	Fetal Heart	heart
44	chr13:29537600-29539800	Flanking Active TSS	Fetal Heart	heart
45	chr13:29537800-29538000	Enhancers	Right Atrium	heart
46	chr13:29537800-29538200	Enhancers	Left Ventricle	heart
47	chr13:29538000-29538400	Weak transcription	Right Atrium	heart
48	chr13:29538200-29538400	Weak transcription	Left Ventricle	heart
49	chr13:29538400-29538800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr13:29538400-29538800	Enhancers	Right Atrium	heart

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