Variant report

Variant	nsv1063733
Chromosome Location	chr20:14357857-14459453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
2	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
3	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
4	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

Extended variants
information (count: 3210 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3210 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546857672	chr20:14357939-14357940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140309943	chr20:14357949-14357950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116991998	chr20:14358002-14358003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76288579	chr20:14358008-14358009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184127961	chr20:14358015-14358016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577140915	chr20:14358022-14358023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201181433	chr20:14358024-14358025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541030734	chr20:14358041-14358042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560826193	chr20:14358103-14358104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80052589	chr20:14358105-14358106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6033955	chr20:14358117-14358118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs76211883	chr20:14358134-14358135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145329892	chr20:14358150-14358151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150613474	chr20:14358177-14358178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561125232	chr20:14358218-14358219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73268816	chr20:14358228-14358229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111511250	chr20:14358232-14358233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547399486	chr20:14358258-14358259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374206212	chr20:14358267-14358268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536166739	chr20:14358327-14358328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556022089	chr20:14358341-14358342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528932688	chr20:14358385-14358386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78405199	chr20:14358414-14358415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538847465	chr20:14358424-14358425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558420068	chr20:14358478-14358479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572115604	chr20:14358493-14358494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554581865	chr20:14358511-14358512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114518114	chr20:14358514-14358515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568397154	chr20:14358551-14358552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74179738	chr20:14358584-14358585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372045311	chr20:14358591-14358592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554651808	chr20:14358604-14358605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548949357	chr20:14358639-14358640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201785637	chr20:14358661-14358662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188888122	chr20:14358671-14358672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543381704	chr20:14358678-14358679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150487206	chr20:14358746-14358747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115317443	chr20:14358795-14358796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545603737	chr20:14358796-14358797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565300183	chr20:14358851-14358852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554062561	chr20:14358886-14358887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149564032	chr20:14358895-14358896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547485060	chr20:14358900-14358901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144259457	chr20:14358908-14358909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs204652	chr20:14358926-14358927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549718679	chr20:14358955-14358956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545969279	chr20:14358962-14358963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558834999	chr20:14358966-14358967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113885532	chr20:14359031-14359032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538523833	chr20:14359039-14359040	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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14351600-14359000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr20:14353400-14359400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:14356600-14365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:14357200-14359000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:14357400-14358200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:14357800-14358800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:14357800-14359600	Enhancers	Fetal Intestine Small	intestine
8	chr20:14357800-14360400	Enhancers	Fetal Intestine Large	intestine
9	chr20:14358200-14358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14358600-14359600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:14358800-14359200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:14359000-14359200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:14359000-14359200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:14359000-14359800	Enhancers	Colon Smooth Muscle	Colon
15	chr20:14364000-14365200	Enhancers	NHEK	skin
16	chr20:14364800-14365000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr20:14364800-14366000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr20:14364800-14366600	Enhancers	Hela-S3	cervix
19	chr20:14365000-14365400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:14365000-14365600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:14365000-14365800	Enhancers	Fetal Brain Male	brain
22	chr20:14365000-14365800	Enhancers	HSMM	muscle
23	chr20:14365000-14366400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr20:14365000-14366600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr20:14365200-14365400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14365200-14365400	Enhancers	HMEC	breast
27	chr20:14365200-14365600	Enhancers	Fetal Lung	lung
28	chr20:14365200-14365800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:14365200-14366200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr20:14365200-14366400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:14365400-14365800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:14365400-14366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:14365400-14368400	Weak transcription	HMEC	breast
34	chr20:14365400-14387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:14365600-14366200	Enhancers	Fetal Brain Female	brain
36	chr20:14365600-14366400	Weak transcription	Fetal Lung	lung
37	chr20:14366400-14366600	Enhancers	Fetal Lung	lung
38	chr20:14368200-14369400	Enhancers	NHEK	skin
39	chr20:14368400-14368600	Enhancers	HMEC	breast
40	chr20:14368400-14369200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:14369200-14377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr20:14374600-14375400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:14375600-14376400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:14376400-14377200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:14376600-14376800	Enhancers	Fetal Heart	heart
46	chr20:14380800-14382200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:14381000-14384000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:14381200-14381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr20:14381200-14384200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:14381400-14381600	Enhancers	Brain Germinal Matrix	brain

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