Variant report

Variant	nsv561391
Chromosome Location	chr13:29728058-29746494
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	chr13:29727502..29729251-chr13:29732953..29735104,2	MCF-7	breast:
2	chr13:29727502..29729251-chr13:29732953..29735104,2	MCF-7	breast:

Extended variants
information (count: 688 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9508300	chr13:29728058-29728059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76526591	chr13:29728084-29728085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192692035	chr13:29728089-29728090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535961329	chr13:29728091-29728092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79798345	chr13:29728131-29728132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115562944	chr13:29728140-29728141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542378317	chr13:29728195-29728196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184489005	chr13:29728237-29728238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144792685	chr13:29728248-29728249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544898705	chr13:29728339-29728340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564813931	chr13:29728442-29728443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533352203	chr13:29728465-29728466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371704702	chr13:29728577-29728578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111336063	chr13:29728615-29728616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566775683	chr13:29728646-29728647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142909718	chr13:29728713-29728714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549247325	chr13:29728734-29728735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12870321	chr13:29728746-29728747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550731541	chr13:29728765-29728766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147303820	chr13:29728790-29728791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4769683	chr13:29728794-29728795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539132650	chr13:29728812-29728813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9551607	chr13:29728952-29728953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140359307	chr13:29729013-29729014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553698839	chr13:29729063-29729064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573570063	chr13:29729111-29729112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369414561	chr13:29729124-29729125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375709068	chr13:29729140-29729141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534136256	chr13:29729167-29729168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542691190	chr13:29729175-29729176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556013017	chr13:29729222-29729223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575903078	chr13:29729244-29729245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544858631	chr13:29729279-29729280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564677039	chr13:29729285-29729286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61945871	chr13:29729286-29729287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578237723	chr13:29729338-29729339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188181989	chr13:29729368-29729369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191567654	chr13:29729376-29729377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144309858	chr13:29729394-29729395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373234393	chr13:29729464-29729465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147810406	chr13:29729489-29729490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563305561	chr13:29729515-29729516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117993721	chr13:29729540-29729541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369922461	chr13:29729572-29729573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377305926	chr13:29729636-29729637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531702481	chr13:29729643-29729644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9508301	chr13:29729652-29729653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571132732	chr13:29729660-29729661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114988745	chr13:29729745-29729746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140084191	chr13:29729763-29729764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29727200-29734200	Weak transcription	Dnd41	blood
2	chr13:29727800-29729000	Enhancers	Fetal Heart	heart
3	chr13:29729000-29730200	Weak transcription	Fetal Heart	heart
4	chr13:29730200-29730800	Enhancers	Fetal Heart	heart
5	chr13:29730800-29735200	Weak transcription	Fetal Heart	heart
6	chr13:29734000-29734400	Enhancers	Aorta	Aorta
7	chr13:29734200-29735400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:29734200-29736400	Enhancers	Dnd41	blood
9	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
10	chr13:29735200-29735600	Enhancers	Fetal Heart	heart
11	chr13:29735400-29739200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr13:29735600-29735800	Weak transcription	Fetal Heart	heart
13	chr13:29735800-29736000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:29735800-29736000	Enhancers	Fetal Heart	heart
15	chr13:29735800-29736200	Enhancers	Gastric	stomach
16	chr13:29735800-29736800	Enhancers	Brain Cingulate Gyrus	brain
17	chr13:29735800-29737000	Enhancers	GM12878-XiMat	blood
18	chr13:29736000-29737200	Enhancers	Brain Substantia Nigra	brain
19	chr13:29736000-29739600	Weak transcription	Fetal Heart	heart
20	chr13:29736600-29737200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:29736800-29737200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:29736800-29737200	Active TSS	A549	lung
23	chr13:29737000-29739400	Weak transcription	GM12878-XiMat	blood
24	chr13:29738200-29738600	Enhancers	Fetal Stomach	stomach
25	chr13:29738600-29743800	Weak transcription	Fetal Stomach	stomach
26	chr13:29739200-29740600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:29739200-29740800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:29739400-29740600	Enhancers	GM12878-XiMat	blood
29	chr13:29739600-29740200	Enhancers	Fetal Heart	heart
30	chr13:29740200-29742600	Weak transcription	Fetal Heart	heart
31	chr13:29742600-29744000	Enhancers	Fetal Heart	heart
32	chr13:29743800-29745000	Enhancers	Fetal Lung	lung
33	chr13:29743800-29745000	Enhancers	Fetal Stomach	stomach
34	chr13:29744000-29744200	Flanking Active TSS	Fetal Heart	heart
35	chr13:29744000-29744400	Enhancers	Fetal Kidney	kidney
36	chr13:29744000-29744800	Enhancers	Right Atrium	heart
37	chr13:29744200-29745000	Enhancers	Left Ventricle	heart
38	chr13:29744200-29745000	Enhancers	Right Ventricle	heart
39	chr13:29744200-29745600	Enhancers	Fetal Heart	heart
40	chr13:29744800-29745400	Enhancers	Dnd41	blood
41	chr13:29745400-29747000	Weak transcription	Dnd41	blood
42	chr13:29745600-29752400	Weak transcription	Fetal Heart	heart

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