Variant report

Variant	nsv1049753
Chromosome Location	chr15:92587172-92600399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92495196..92498509-chr15:92585959..92588143,4	MCF-7	breast:
2	chr15:92584947..92586453-chr15:92587413..92590025,2	K562	blood:
3	chr15:92582922..92584573-chr15:92591529..92593824,2	MCF-7	breast:
4	chr15:92578004..92579721-chr15:92585811..92587645,2	K562	blood:

Extended variants
information (count: 604 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74030424	chr15:92587188-92587189	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532774819	chr15:92587189-92587190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146798630	chr15:92587255-92587256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs140504726	chr15:92587276-92587277	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs527414341	chr15:92587292-92587293	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115289480	chr15:92587314-92587315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs34250696	chr15:92587324-92587325	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535966654	chr15:92587327-92587328	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs549519466	chr15:92587386-92587387	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566431800	chr15:92587392-92587393	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538857715	chr15:92587425-92587426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200177637	chr15:92587447-92587448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187080973	chr15:92587480-92587481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144163149	chr15:92587521-92587522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544479209	chr15:92587554-92587555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553978100	chr15:92587561-92587562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555007641	chr15:92587579-92587580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372482491	chr15:92587632-92587633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192363541	chr15:92587643-92587644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180723760	chr15:92587652-92587653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560663523	chr15:92587683-92587684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577263703	chr15:92587687-92587688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546416121	chr15:92587736-92587737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7167618	chr15:92587773-92587774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369843229	chr15:92587794-92587795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531884562	chr15:92587814-92587815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146513555	chr15:92587820-92587821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531131248	chr15:92587834-92587835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560569773	chr15:92587846-92587847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544209103	chr15:92587848-92587849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562787242	chr15:92587858-92587859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149103490	chr15:92587921-92587922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186269294	chr15:92587974-92587975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143144418	chr15:92587992-92587993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529913152	chr15:92588025-92588026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538347460	chr15:92588070-92588071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552358864	chr15:92588194-92588195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569026738	chr15:92588212-92588213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554596814	chr15:92588217-92588218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538151672	chr15:92588236-92588237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114971514	chr15:92588246-92588247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373302904	chr15:92588249-92588250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548367215	chr15:92588299-92588300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7168605	chr15:92588324-92588325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28735253	chr15:92588329-92588330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553867481	chr15:92588338-92588339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577274672	chr15:92588344-92588345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545929156	chr15:92588376-92588377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190066868	chr15:92588392-92588393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576197483	chr15:92588397-92588398	Weak transcription	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:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92579400-92591200	Weak transcription	Ovary	ovary
2	chr15:92581000-92593400	Weak transcription	Aorta	Aorta
3	chr15:92583800-92587200	Enhancers	Fetal Heart	heart
4	chr15:92583800-92587400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr15:92583800-92588200	Enhancers	Right Atrium	heart
6	chr15:92584000-92588000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:92584400-92587200	Weak transcription	Right Ventricle	heart
8	chr15:92584600-92587400	Weak transcription	Psoas Muscle	Psoas
9	chr15:92584600-92592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:92585200-92587400	Enhancers	Lung	lung
11	chr15:92585200-92588200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:92585200-92588200	Enhancers	Left Ventricle	heart
13	chr15:92585400-92601200	Weak transcription	Fetal Brain Male	brain
14	chr15:92585600-92587600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:92585600-92591400	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:92585800-92587800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:92585800-92588200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:92585800-92592600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:92586000-92587200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:92586000-92588000	Enhancers	NHEK	skin
21	chr15:92586000-92591000	Weak transcription	Brain Angular Gyrus	brain
22	chr15:92586000-92593200	Weak transcription	Gastric	stomach
23	chr15:92586200-92587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:92586200-92587400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:92586200-92587800	Enhancers	HMEC	breast
26	chr15:92586200-92588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:92586200-92591200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:92586400-92591000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:92586600-92588000	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:92586600-92588200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:92586600-92588200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:92586800-92587200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:92586800-92588000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:92586800-92592200	Weak transcription	Spleen	Spleen
35	chr15:92587000-92587600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr15:92587000-92588200	Enhancers	Esophagus	oesophagus
37	chr15:92587200-92587400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:92587200-92587400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr15:92587200-92587400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr15:92587200-92587600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr15:92587200-92588000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:92587200-92588000	Enhancers	Right Ventricle	heart
43	chr15:92587200-92588200	Enhancers	Fetal Thymus	thymus
44	chr15:92587200-92589000	Weak transcription	Fetal Heart	heart
45	chr15:92587400-92587600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr15:92587400-92587600	Enhancers	Psoas Muscle	Psoas
47	chr15:92587400-92587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:92587400-92591000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:92587400-92592400	Weak transcription	Lung	lung
50	chr15:92587600-92588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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