Variant report

Variant	nsv585579
Chromosome Location	chr20:15112292-15156130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1466 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564322079	chr20:15119032-15119033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576115992	chr20:15119041-15119042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6110528	chr20:15119097-15119098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561958606	chr20:15119098-15119099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529344502	chr20:15119103-15119104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6110529	chr20:15119114-15119115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6079676	chr20:15119125-15119126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533486517	chr20:15119148-15119149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191026905	chr20:15119176-15119177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570237978	chr20:15119213-15119214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549309897	chr20:15119224-15119225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567604885	chr20:15119226-15119227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151306253	chr20:15119245-15119246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553751853	chr20:15119321-15119322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183138092	chr20:15119358-15119359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201487551	chr20:15119359-15119360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541360637	chr20:15119450-15119451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539528172	chr20:15119460-15119461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187467140	chr20:15119503-15119504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193043102	chr20:15119505-15119506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576350626	chr20:15119520-15119521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140565998	chr20:15119537-15119538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555732141	chr20:15119617-15119618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573958454	chr20:15119648-15119649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541301723	chr20:15119649-15119650	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559708597	chr20:15119700-15119701	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532222718	chr20:15119705-15119706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533131416	chr20:15119712-15119713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545532474	chr20:15119735-15119736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs34686852	chr20:15119772-15119773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs17292844	chr20:15119797-15119798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs183010047	chr20:15119815-15119816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562676833	chr20:15119847-15119848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377149197	chr20:15119865-15119866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117598789	chr20:15119884-15119885	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs409113	chr20:15119951-15119952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76062980	chr20:15119953-15119954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs443355	chr20:15119991-15119992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111669958	chr20:15120037-15120038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539059255	chr20:15120041-15120042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188098480	chr20:15120048-15120049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146647490	chr20:15120056-15120057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569750269	chr20:15120071-15120072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376356398	chr20:15120075-15120076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17358700	chr20:15120088-15120089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs555620266	chr20:15120134-15120135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570565934	chr20:15120151-15120152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141423143	chr20:15120157-15120158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552992695	chr20:15120164-15120165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578003084	chr20:15120168-15120169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15119000-15119600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr20:15119000-15120200	Enhancers	Liver	Liver
3	chr20:15119200-15119800	Enhancers	Fetal Kidney	kidney
4	chr20:15119200-15120000	Enhancers	A549	lung
5	chr20:15119200-15120000	Enhancers	HepG2	liver
6	chr20:15119200-15120200	Enhancers	Stomach Mucosa	stomach
7	chr20:15119200-15120600	Enhancers	Fetal Intestine Large	intestine
8	chr20:15119400-15119600	Enhancers	Fetal Heart	heart
9	chr20:15119600-15120000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr20:15119600-15120200	Enhancers	Fetal Intestine Small	intestine
11	chr20:15119600-15125200	Weak transcription	Fetal Heart	heart
12	chr20:15119800-15120200	Enhancers	Brain Germinal Matrix	brain
13	chr20:15119800-15127400	Weak transcription	Fetal Kidney	kidney
14	chr20:15120000-15120600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr20:15120000-15120600	Enhancers	Gastric	stomach
16	chr20:15120200-15121200	Weak transcription	Stomach Mucosa	stomach
17	chr20:15120200-15121400	Weak transcription	Fetal Intestine Small	intestine
18	chr20:15120600-15122000	Weak transcription	Gastric	stomach
19	chr20:15120600-15122200	Weak transcription	Fetal Intestine Large	intestine
20	chr20:15121000-15121400	Enhancers	Primary hematopoietic stem cells	blood
21	chr20:15121200-15121600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:15121200-15121600	Enhancers	Stomach Mucosa	stomach
23	chr20:15121400-15121600	Enhancers	Fetal Intestine Small	intestine
24	chr20:15121400-15125200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr20:15121600-15122000	Weak transcription	Fetal Intestine Small	intestine
26	chr20:15121600-15124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr20:15122000-15122200	Enhancers	Gastric	stomach
28	chr20:15122000-15123000	Enhancers	Fetal Intestine Small	intestine
29	chr20:15122200-15123000	Enhancers	Fetal Intestine Large	intestine
30	chr20:15124400-15126600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:15125000-15125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:15125200-15125800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:15125200-15126200	Enhancers	Fetal Heart	heart
34	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells	blood
35	chr20:15125200-15126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr20:15125400-15126000	Enhancers	Ovary	ovary
37	chr20:15126400-15127800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr20:15126600-15127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:15127400-15127800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:15127400-15127800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr20:15127400-15127800	Enhancers	Brain Germinal Matrix	brain
42	chr20:15127400-15128000	Enhancers	Fetal Kidney	kidney
43	chr20:15127400-15128200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:15127400-15128400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr20:15127600-15128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:15127600-15128400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:15127600-15128400	Enhancers	Fetal Lung	lung
48	chr20:15127800-15128000	Enhancers	Primary hematopoietic stem cells	blood
49	chr20:15127800-15128200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr20:15127800-15128400	Enhancers	HUES64 Cell Line	embryonic stem cell

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