Variant report

Variant	nsv1057672
Chromosome Location	chr20:15512342-15527164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3071260	chr20:15514213-15514214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199648191	chr20:15514214-15514215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527597312	chr20:15514216-15514217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71190189	chr20:15514220-15514221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6110659	chr20:15514265-15514266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553931937	chr20:15514283-15514284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146712392	chr20:15514318-15514319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545773720	chr20:15514343-15514344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560222122	chr20:15514407-15514408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57465741	chr20:15514425-15514426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114205992	chr20:15514471-15514472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111332372	chr20:15514520-15514521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73098278	chr20:15514593-15514594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561510045	chr20:15514626-15514627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534185865	chr20:15514642-15514643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536758726	chr20:15514649-15514650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529482221	chr20:15514661-15514662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184660051	chr20:15514701-15514702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547214696	chr20:15514762-15514763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559784998	chr20:15514782-15514783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533308251	chr20:15514819-15514820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1233736	chr20:15514821-15514822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189122684	chr20:15514856-15514857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1233735	chr20:15514898-15514899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535374234	chr20:15514919-15514920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549715412	chr20:15514949-15514950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551791903	chr20:15514976-15514977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149411927	chr20:15514994-15514995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6079874	chr20:15515065-15515066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1233734	chr20:15515103-15515104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537495153	chr20:15515120-15515121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180713165	chr20:15515126-15515127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145553867	chr20:15515163-15515164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117092194	chr20:15515170-15515171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186265482	chr20:15515176-15515177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561625607	chr20:15515187-15515188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189214514	chr20:15515252-15515253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537966799	chr20:15515300-15515301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6110660	chr20:15515392-15515393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536079696	chr20:15515404-15515405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1233733	chr20:15515476-15515477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181586021	chr20:15515478-15515479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536497042	chr20:15515514-15515515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77422343	chr20:15515523-15515524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554794456	chr20:15515535-15515536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551593979	chr20:15515536-15515537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185810948	chr20:15515547-15515548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79987336	chr20:15515567-15515568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549428454	chr20:15515601-15515602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74350682	chr20:15515614-15515615	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
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15514200-15516000	Enhancers	Fetal Brain Male	brain
2	chr20:15515200-15516000	Enhancers	Brain Angular Gyrus	brain
3	chr20:15516600-15517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15516800-15517200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:15517200-15518600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:15518600-15520000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:15522400-15524800	Weak transcription	Gastric	stomach
8	chr20:15524600-15524800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:15524600-15525400	Enhancers	Placenta	Placenta
10	chr20:15525000-15526400	Enhancers	Fetal Kidney	kidney
11	chr20:15525000-15526400	Enhancers	Ovary	ovary
12	chr20:15525200-15526200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:15525200-15526600	Enhancers	Fetal Heart	heart
14	chr20:15525400-15526200	Enhancers	Brain Germinal Matrix	brain
15	chr20:15525400-15526600	Enhancers	Fetal Stomach	stomach
16	chr20:15525600-15526000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:15525600-15526000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:15525600-15526600	Enhancers	Fetal Lung	lung
19	chr20:15526000-15526800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr20:15526600-15528000	Weak transcription	Fetal Lung	lung

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