Variant report

Variant	esv3311554
Chromosome Location	chr15:92576910-92579517
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	chr15:92578004..92579721-chr15:92585811..92587645,2	K562	blood:
2	chr15:92574683..92576781-chr15:92577494..92579219,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34686794	chr15:92576912-92576913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs12594537	chr15:92576926-92576927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs377681740	chr15:92576974-92576975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs534014616	chr15:92576981-92576982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs141615146	chr15:92577027-92577028	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs577259464	chr15:92577060-92577061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs370974411	chr15:92577071-92577072	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs546107319	chr15:92577090-92577091	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs181432329	chr15:92577095-92577096	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs186889053	chr15:92577110-92577111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs541979204	chr15:92577118-92577119	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs562176121	chr15:92577142-92577143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527762962	chr15:92577151-92577152	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs76463252	chr15:92577163-92577164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs564336317	chr15:92577169-92577170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533455385	chr15:92577185-92577186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs191693023	chr15:92577187-92577188	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs550404449	chr15:92577209-92577210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs568783658	chr15:92577213-92577214	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs531303262	chr15:92577218-92577219	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573864943	chr15:92577244-92577245	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs568192358	chr15:92577261-92577262	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs544127406	chr15:92577270-92577271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs557395776	chr15:92577295-92577296	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs569236142	chr15:92577305-92577306	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs147042293	chr15:92577313-92577314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs183101792	chr15:92577314-92577315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs544717207	chr15:92577316-92577317	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs72757421	chr15:92577334-92577335	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs111351200	chr15:92577339-92577340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs556392672	chr15:92577376-92577377	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs13329180	chr15:92577382-92577383	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs186318061	chr15:92577390-92577391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs149539131	chr15:92577391-92577392	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs115164564	chr15:92577401-92577402	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs541118049	chr15:92577408-92577409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs377715231	chr15:92577425-92577426	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs533322841	chr15:92577426-92577427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs540912394	chr15:92577427-92577428	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs543776092	chr15:92577428-92577429	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs555371938	chr15:92577440-92577441	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs573813203	chr15:92577444-92577445	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540882942	chr15:92577452-92577453	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548218442	chr15:92577483-92577484	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs561661177	chr15:92577500-92577501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs552720489	chr15:92577507-92577508	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs562283681	chr15:92577510-92577511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs527388782	chr15:92577572-92577573	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs142108989	chr15:92577578-92577579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs113310751	chr15:92577588-92577589	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92570600-92578000	Enhancers	Right Atrium	heart
2	chr15:92571000-92578000	Enhancers	Brain Hippocampus Middle	brain
3	chr15:92572200-92581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:92573000-92577200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:92573000-92578000	Enhancers	Brain Cingulate Gyrus	brain
6	chr15:92573200-92577800	Enhancers	Brain Substantia Nigra	brain
7	chr15:92573800-92579400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr15:92574200-92580600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:92574200-92585800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:92574600-92579400	Enhancers	Left Ventricle	heart
11	chr15:92574800-92580600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:92574800-92585800	Weak transcription	Pancreas	Pancrea
13	chr15:92575000-92580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:92575000-92580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:92575000-92580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:92575200-92578000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr15:92575200-92578200	Enhancers	Right Ventricle	heart
18	chr15:92575400-92577000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:92575400-92580400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:92575400-92580800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:92575600-92584000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:92575800-92577000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr15:92575800-92577400	Enhancers	Brain Angular Gyrus	brain
24	chr15:92575800-92584400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:92576000-92583800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:92576200-92577000	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:92576400-92577000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:92576400-92577000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:92576400-92577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:92576400-92578000	Enhancers	Spleen	Spleen
31	chr15:92576400-92578200	Enhancers	Fetal Heart	heart
32	chr15:92576600-92577000	Enhancers	Esophagus	oesophagus
33	chr15:92576600-92577000	Enhancers	NHDF-Ad	bronchial
34	chr15:92576600-92577200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:92576600-92577400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:92576600-92577400	Enhancers	Brain Anterior Caudate	brain
37	chr15:92576600-92577400	Enhancers	Fetal Lung	lung
38	chr15:92576600-92577600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:92576600-92577800	Enhancers	Fetal Brain Male	brain
40	chr15:92576600-92577800	Enhancers	Ovary	ovary
41	chr15:92576600-92578000	Enhancers	Aorta	Aorta
42	chr15:92576600-92578000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr15:92576600-92578000	Enhancers	Lung	lung
44	chr15:92576800-92577000	Enhancers	Stomach Smooth Muscle	stomach
45	chr15:92576800-92577200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:92576800-92577200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:92576800-92577400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:92576800-92577800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:92576800-92580000	Weak transcription	Adipose Nuclei	Adipose
50	chr15:92576800-92580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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