Variant report

Variant	nsv524145
Chromosome Location	chr20:14455497-14466618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6110305	chr20:14455497-14455498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531211695	chr20:14455515-14455516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146003257	chr20:14455622-14455623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549601930	chr20:14455640-14455641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138560435	chr20:14455645-14455646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60329807	chr20:14455654-14455655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536521511	chr20:14455705-14455706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186628375	chr20:14455789-14455790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564460190	chr20:14455795-14455796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192561514	chr20:14455798-14455799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547202940	chr20:14455800-14455801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554027686	chr20:14455801-14455802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553206183	chr20:14455856-14455857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549500879	chr20:14455887-14455888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184784559	chr20:14455890-14455891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538256797	chr20:14455910-14455911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189370612	chr20:14455912-14455913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111981639	chr20:14455913-14455914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373500208	chr20:14455953-14455954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376972760	chr20:14455967-14455968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147450349	chr20:14455975-14455976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139877149	chr20:14455976-14455977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34934982	chr20:14455978-14455979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532784381	chr20:14455996-14455997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553977432	chr20:14456002-14456003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9967933	chr20:14456060-14456061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542369196	chr20:14456067-14456068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111338417	chr20:14456120-14456121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562255140	chr20:14456129-14456130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557964153	chr20:14456153-14456154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550704242	chr20:14456216-14456217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544630903	chr20:14456217-14456218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201655634	chr20:14456226-14456227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs391759	chr20:14456250-14456251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200922588	chr20:14456327-14456328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs379606	chr20:14456439-14456440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546974088	chr20:14456491-14456492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560791559	chr20:14456523-14456524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529472627	chr20:14456594-14456595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565499342	chr20:14456631-14456632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549563992	chr20:14456643-14456644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569398413	chr20:14456662-14456663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138763287	chr20:14456685-14456686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199710877	chr20:14456700-14456701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374131498	chr20:14456701-14456702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551834907	chr20:14456785-14456786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79342305	chr20:14456877-14456878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147308769	chr20:14456897-14456898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534145940	chr20:14456961-14456962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574018132	chr20:14457042-14457043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14450800-14461400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:14455200-14457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14457200-14460200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:14457400-14457800	Enhancers	HSMM	muscle
5	chr20:14457400-14458000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:14457400-14458800	Enhancers	NHDF-Ad	bronchial
7	chr20:14457400-14459400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:14457400-14459600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr20:14457400-14460000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:14457600-14458000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:14457600-14458000	Enhancers	NHEK	skin
12	chr20:14457600-14458000	Enhancers	Osteobl	bone
13	chr20:14457600-14458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:14457800-14462200	Weak transcription	HSMM	muscle
15	chr20:14458000-14458400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:14458000-14458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:14458000-14462200	Weak transcription	NHEK	skin
18	chr20:14458000-14462200	Weak transcription	Osteobl	bone
19	chr20:14458400-14459600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr20:14458600-14459000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:14458800-14459200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:14458800-14462200	Weak transcription	NHDF-Ad	bronchial
23	chr20:14459000-14462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:14459200-14459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:14459400-14460000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14459400-14462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:14459600-14462000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr20:14460000-14461800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:14460000-14461800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:14460200-14460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:14460600-14460800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:14460600-14460800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:14460800-14463200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:14460800-14477600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:14461800-14462600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:14461800-14463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:14462000-14462800	Enhancers	HUVEC	blood vessel
38	chr20:14462000-14463600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:14462200-14462600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:14462200-14462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:14462200-14462600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:14462200-14462600	Enhancers	NHDF-Ad	bronchial
43	chr20:14462200-14462600	Enhancers	NHEK	skin
44	chr20:14462200-14462600	Enhancers	Osteobl	bone
45	chr20:14462200-14463000	Enhancers	HSMM	muscle
46	chr20:14462200-14463200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:14462400-14463000	Enhancers	HMEC	breast
48	chr20:14462600-14488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr20:14462800-14469200	Weak transcription	HUVEC	blood vessel
50	chr20:14463200-14463600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links