Variant report

Variant	nsv585648
Chromosome Location	chr20:15807441-15829235
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	chr20:15823250..15823775-chr20:16222526..16223222,2	MCF-7	breast:
2	chr20:15823268..15824166-chr20:15910502..15911549,3	MCF-7	breast:

Extended variants
information (count: 895 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135562	chr20:15807441-15807442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140130523	chr20:15807446-15807447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566920722	chr20:15807463-15807464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184637774	chr20:15807490-15807491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565295585	chr20:15807621-15807622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577281560	chr20:15807665-15807666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201067870	chr20:15807674-15807675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145554752	chr20:15807744-15807745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73898518	chr20:15807794-15807795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73614464	chr20:15807804-15807805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560712535	chr20:15807813-15807814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141003132	chr20:15807827-15807828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149842097	chr20:15807843-15807844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570935098	chr20:15807892-15807893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73246742	chr20:15807905-15807906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145719779	chr20:15807908-15807909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569097707	chr20:15807915-15807916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536544969	chr20:15807971-15807972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554502293	chr20:15808003-15808004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558207250	chr20:15808050-15808051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73614465	chr20:15808094-15808095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554815440	chr20:15808131-15808132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76229991	chr20:15808152-15808153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577318324	chr20:15808187-15808188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544318865	chr20:15808206-15808207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189570677	chr20:15808210-15808211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575057150	chr20:15808248-15808249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192259861	chr20:15808280-15808281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35416828	chr20:15808282-15808283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560332463	chr20:15808319-15808320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527853612	chr20:15808334-15808335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185852699	chr20:15808343-15808344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189474421	chr20:15808369-15808370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547099361	chr20:15808418-15808419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532225568	chr20:15808441-15808442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6034296	chr20:15808444-15808445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6131728	chr20:15808487-15808488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148916582	chr20:15808494-15808495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6135563	chr20:15808506-15808507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181795465	chr20:15808544-15808545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16996627	chr20:15808549-15808550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558773459	chr20:15808554-15808555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201890532	chr20:15808605-15808606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372598230	chr20:15808613-15808614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73614466	chr20:15808643-15808644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73614467	chr20:15808679-15808680	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143714223	chr20:15808690-15808691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574744950	chr20:15808703-15808704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76256362	chr20:15808737-15808738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186153602	chr20:15808768-15808769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15806000-15812000	Weak transcription	Gastric	stomach
2	chr20:15808000-15808200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr20:15808000-15808600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:15808000-15808800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr20:15808000-15808800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr20:15808200-15808600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:15808200-15808600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr20:15808200-15808600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:15808800-15809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr20:15810400-15811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:15811400-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:15811400-15812400	Enhancers	NHEK	skin
13	chr20:15811600-15812000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr20:15811600-15812400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:15811600-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:15811600-15812600	Enhancers	HMEC	breast
17	chr20:15812000-15812400	Enhancers	Gastric	stomach
18	chr20:15812200-15812400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:15812200-15812400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:15813000-15813400	Enhancers	Brain Germinal Matrix	brain
21	chr20:15813400-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:15813400-15814400	Weak transcription	Brain Germinal Matrix	brain
23	chr20:15813800-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:15814000-15814200	Enhancers	Fetal Brain Female	brain
25	chr20:15814400-15815000	Enhancers	Brain Germinal Matrix	brain
26	chr20:15814400-15815400	Weak transcription	Fetal Brain Female	brain
27	chr20:15814400-15816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr20:15814400-15817400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:15815000-15816600	Weak transcription	Brain Germinal Matrix	brain
30	chr20:15815400-15815800	Enhancers	Fetal Brain Female	brain
31	chr20:15815400-15816800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:15815400-15816800	Enhancers	Fetal Heart	heart
33	chr20:15815600-15815800	Bivalent Enhancer	HSMMtube	muscle
34	chr20:15815800-15829600	Weak transcription	Fetal Brain Female	brain
35	chr20:15816600-15816800	Enhancers	Brain Germinal Matrix	brain
36	chr20:15816800-15817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:15817000-15818200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:15817400-15817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr20:15817400-15818200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr20:15818000-15818200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr20:15818000-15818200	Bivalent Enhancer	HSMMtube	muscle
42	chr20:15820000-15820200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:15820800-15822000	Enhancers	Colon Smooth Muscle	Colon
44	chr20:15821000-15822000	Enhancers	Fetal Brain Male	brain
45	chr20:15822000-15824000	Weak transcription	Fetal Brain Male	brain
46	chr20:15823600-15824000	Enhancers	Primary B cells from peripheral blood	blood
47	chr20:15823600-15824200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr20:15823800-15824000	Enhancers	Primary B cells from cord blood	blood
49	chr20:15823800-15824200	Enhancers	Fetal Heart	heart
50	chr20:15824000-15824600	Enhancers	Fetal Brain Male	brain

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