Variant report

Variant	nsv514930
Chromosome Location	chr20:14428471-14439889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 320 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140815692	chr20:14428475-14428476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573499167	chr20:14428531-14428532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113899478	chr20:14428534-14428535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150168544	chr20:14428561-14428562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118108575	chr20:14428570-14428571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145596977	chr20:14428586-14428587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542649218	chr20:14428590-14428591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550703986	chr20:14428603-14428604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114117740	chr20:14428616-14428617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11087090	chr20:14428622-14428623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533209323	chr20:14428642-14428643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs33963092	chr20:14428643-14428644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11473336	chr20:14428653-14428654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78571842	chr20:14428654-14428655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150479834	chr20:14428660-14428661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376121523	chr20:14428676-14428677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546981441	chr20:14428682-14428683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs41328645	chr20:14428703-14428704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs368372780	chr20:14428735-14428736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556155376	chr20:14428744-14428745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573864579	chr20:14428755-14428756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189023046	chr20:14428764-14428765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569104602	chr20:14428778-14428779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182458579	chr20:14428884-14428885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75376372	chr20:14428963-14428964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185452674	chr20:14428991-14428992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533619413	chr20:14429024-14429025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553135111	chr20:14429025-14429026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553753906	chr20:14429037-14429038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141430375	chr20:14429076-14429077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375420391	chr20:14429170-14429171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146943480	chr20:14429205-14429206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562236219	chr20:14429231-14429232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137885681	chr20:14429282-14429283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113700500	chr20:14429292-14429293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376427511	chr20:14429315-14429316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370604112	chr20:14429316-14429317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13040987	chr20:14429322-14429323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112811466	chr20:14429329-14429330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6079447	chr20:14429347-14429348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560562454	chr20:14429348-14429349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189386945	chr20:14429414-14429415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529253064	chr20:14429416-14429417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541577809	chr20:14429426-14429427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11483734	chr20:14429427-14429428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370922514	chr20:14429441-14429442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181710974	chr20:14429447-14429448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199932356	chr20:14429462-14429463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569168550	chr20:14429487-14429488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367923751	chr20:14429593-14429594	Weak transcription Enhancers	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14426400-14430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:14426600-14429800	Weak transcription	A549	lung
4	chr20:14426600-14429800	Weak transcription	NHEK	skin
5	chr20:14426800-14429800	Weak transcription	NHLF	lung
6	chr20:14426800-14430400	Weak transcription	HMEC	breast
7	chr20:14427000-14429800	Weak transcription	HUVEC	blood vessel
8	chr20:14427200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
10	chr20:14427600-14429800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr20:14428200-14429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:14428400-14429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:14429000-14429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:14429200-14430400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:14429600-14430000	Enhancers	Brain Hippocampus Middle	brain
16	chr20:14429600-14430400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:14429600-14430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:14429600-14430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:14429600-14431600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr20:14429800-14430200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:14429800-14430200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:14429800-14430600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr20:14429800-14430600	Enhancers	NHLF	lung
24	chr20:14429800-14430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14429800-14430800	Enhancers	A549	lung
26	chr20:14429800-14430800	Enhancers	HUVEC	blood vessel
27	chr20:14429800-14431000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:14429800-14431200	Enhancers	NHEK	skin
29	chr20:14430000-14430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:14430200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:14430400-14430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr20:14430400-14430800	Enhancers	HMEC	breast
33	chr20:14430400-14431000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:14431000-14431600	Enhancers	Stomach Mucosa	stomach
35	chr20:14431000-14433200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:14431200-14432200	Weak transcription	NHEK	skin
37	chr20:14432200-14432400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:14432200-14432400	Enhancers	NHEK	skin
39	chr20:14432400-14433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:14433400-14434200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:14433800-14434000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:14433800-14434000	Enhancers	Hela-S3	cervix
43	chr20:14433800-14434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr20:14434000-14434400	Enhancers	Fetal Kidney	kidney
45	chr20:14434200-14437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:14437400-14437600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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