Variant report

Variant	nsv585645
Chromosome Location	chr20:15796051-15817106
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	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:

Extended variants
information (count: 675 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135554	chr20:15796051-15796052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35634648	chr20:15796058-15796059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564922791	chr20:15796065-15796066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398061333	chr20:15796068-15796069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397970361	chr20:15796069-15796070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147197418	chr20:15796102-15796103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544361437	chr20:15796109-15796110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529980130	chr20:15796120-15796121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530084598	chr20:15796218-15796219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139555964	chr20:15796229-15796230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6135555	chr20:15796237-15796238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200938523	chr20:15796252-15796253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370782140	chr20:15796265-15796266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552773948	chr20:15796275-15796276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570951827	chr20:15796280-15796281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538753132	chr20:15796352-15796353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149746716	chr20:15796441-15796442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16996618	chr20:15796454-15796455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535815899	chr20:15796487-15796488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117027850	chr20:15796494-15796495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573133910	chr20:15796500-15796501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377549250	chr20:15796515-15796516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145597623	chr20:15796519-15796520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188129564	chr20:15796520-15796521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192568779	chr20:15796578-15796579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80256163	chr20:15796585-15796586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562944905	chr20:15796598-15796599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386812800	chr20:15796633-15796634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6135556	chr20:15796634-15796635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6135557	chr20:15796658-15796659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190104289	chr20:15796659-15796660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367618877	chr20:15796670-15796671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181789672	chr20:15796675-15796676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531777264	chr20:15796679-15796680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377338377	chr20:15796696-15796697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553545869	chr20:15796700-15796701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575042859	chr20:15796732-15796733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541497118	chr20:15796753-15796754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535704083	chr20:15796797-15796798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6131727	chr20:15796805-15796806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374868187	chr20:15796814-15796815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116242310	chr20:15796815-15796816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148413098	chr20:15796835-15796836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554191997	chr20:15796864-15796865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566322925	chr20:15796865-15796866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16996620	chr20:15796902-15796903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73614460	chr20:15796978-15796979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576992024	chr20:15796980-15796981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184956264	chr20:15796983-15796984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146461494	chr20:15796984-15796985	Weak transcription Enhancers	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15790200-15799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:15794800-15796200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:15795200-15796200	Enhancers	HMEC	breast
4	chr20:15795400-15796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:15795400-15796200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:15795400-15796200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:15795400-15796200	Enhancers	HSMM	muscle
8	chr20:15795400-15796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:15795400-15796400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:15795600-15796200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr20:15795800-15796200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:15796000-15796800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr20:15796000-15798200	Weak transcription	HSMMtube	muscle
14	chr20:15796000-15799000	Weak transcription	Liver	Liver
15	chr20:15796200-15798000	Weak transcription	HSMM	muscle
16	chr20:15796400-15798400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:15796800-15797600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr20:15797600-15798400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr20:15798000-15798600	Enhancers	HSMM	muscle
20	chr20:15798200-15799800	Enhancers	Placenta	Placenta
21	chr20:15798200-15799800	Enhancers	HSMMtube	muscle
22	chr20:15798400-15799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:15798400-15799800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr20:15798400-15799800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr20:15798600-15799000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:15799000-15799200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr20:15799000-15799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr20:15799000-15799600	Enhancers	Liver	Liver
29	chr20:15799000-15799600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr20:15799000-15799800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr20:15799000-15799800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:15799000-15799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:15799000-15799800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr20:15799000-15799800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr20:15799000-15799800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:15799200-15799600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:15799200-15799600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr20:15799200-15799600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr20:15799200-15799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr20:15799200-15799800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr20:15799200-15799800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr20:15799400-15799800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:15799800-15801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr20:15801000-15801800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:15805800-15806000	Enhancers	Gastric	stomach
46	chr20:15806000-15812000	Weak transcription	Gastric	stomach
47	chr20:15808000-15808200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr20:15808000-15808600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr20:15808000-15808800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr20:15808000-15808800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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