Variant report

Variant	esv3427221
Chromosome Location	chr15:45120024-45120577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2467832	chr15:45120026-45120027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530979941	chr15:45120035-45120036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2470929	chr15:45120046-45120047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544514398	chr15:45120053-45120054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561200514	chr15:45120060-45120061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2412947	chr15:45120067-45120068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74311129	chr15:45120071-45120072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398078150	chr15:45120073-45120074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530325443	chr15:45120078-45120079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2412948	chr15:45120082-45120083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112384175	chr15:45120083-45120084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61636465	chr15:45120089-45120090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111867633	chr15:45120109-45120110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552363445	chr15:45120110-45120111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577383832	chr15:45120114-45120115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188967057	chr15:45120144-45120145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554903965	chr15:45120154-45120155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371570792	chr15:45120167-45120168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1669848	chr15:45120171-45120172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533849988	chr15:45120198-45120199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568411261	chr15:45120206-45120207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149833779	chr15:45120259-45120260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1720711	chr15:45120284-45120285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140054371	chr15:45120287-45120288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555636674	chr15:45120303-45120304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145133740	chr15:45120309-45120310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555945700	chr15:45120335-45120336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147577999	chr15:45120377-45120378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142001264	chr15:45120379-45120380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561139392	chr15:45120383-45120384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574829718	chr15:45120404-45120405	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28570163	chr15:45120417-45120418	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560558306	chr15:45120441-45120442	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112324726	chr15:45120453-45120454	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs3110679	chr15:45120476-45120477	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs3110680	chr15:45120480-45120481	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74009440	chr15:45120483-45120484	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531836758	chr15:45120535-45120536	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7182562	chr15:45120546-45120547	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536283288	chr15:45120575-45120576	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369101158	chr15:45120576-45120577	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45105800-45121600	Weak transcription	Fetal Intestine Small	intestine
2	chr15:45112000-45123000	Weak transcription	Esophagus	oesophagus
3	chr15:45112600-45120400	Weak transcription	Lung	lung
4	chr15:45117200-45120400	Enhancers	HepG2	liver
5	chr15:45117400-45120400	Weak transcription	Gastric	stomach
6	chr15:45117600-45120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45117600-45121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:45118400-45123000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:45118600-45120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:45119400-45120400	Weak transcription	Liver	Liver
11	chr15:45119600-45120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:45119600-45120600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:45119600-45120800	Enhancers	Stomach Mucosa	stomach
14	chr15:45119800-45120400	Weak transcription	Dnd41	blood
15	chr15:45119800-45120600	Enhancers	Colonic Mucosa	Colon
16	chr15:45119800-45123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:45120200-45121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:45120400-45120600	Enhancers	Gastric	stomach
19	chr15:45120400-45120800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:45120400-45120800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:45120400-45120800	Enhancers	Liver	Liver
22	chr15:45120400-45120800	Enhancers	Placenta	Placenta
23	chr15:45120400-45120800	Enhancers	Lung	lung
24	chr15:45120400-45120800	Genic enhancers	Dnd41	blood
25	chr15:45120400-45120800	Flanking Active TSS	HepG2	liver
26	chr15:45120400-45121800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:45120400-45122000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:45120400-45125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:45120400-45128400	Weak transcription	Spleen	Spleen

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