Variant report

Variant	nsv965932
Chromosome Location	chr20:11264942-11267736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JAG1-3	chr20:11267310-11267427	ENSG00000230990

Extended variants
information (count: 110 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566067577	chr20:11264954-11264955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549267884	chr20:11264955-11264956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535216247	chr20:11265002-11265003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6033090	chr20:11265026-11265027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554906592	chr20:11265054-11265055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532153682	chr20:11265072-11265073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35685612	chr20:11265076-11265077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11087021	chr20:11265097-11265098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs556969345	chr20:11265114-11265115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576932739	chr20:11265128-11265129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79475036	chr20:11265169-11265170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528754246	chr20:11265170-11265171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78011963	chr20:11265187-11265188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542664793	chr20:11265211-11265212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541965983	chr20:11265270-11265271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564903360	chr20:11265340-11265341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562555323	chr20:11265367-11265368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186540296	chr20:11265377-11265378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6108899	chr20:11265434-11265435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530685985	chr20:11265467-11265468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192394999	chr20:11265469-11265470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544115342	chr20:11265484-11265485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564073850	chr20:11265509-11265510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532349507	chr20:11265529-11265530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570898180	chr20:11265549-11265550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566156481	chr20:11265551-11265552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185487750	chr20:11265573-11265574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548717444	chr20:11265575-11265576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6108900	chr20:11265595-11265596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568693256	chr20:11265635-11265636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62191817	chr20:11265642-11265643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551281807	chr20:11265649-11265650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370518922	chr20:11265709-11265710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529617204	chr20:11265719-11265720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571191820	chr20:11265777-11265778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190415962	chr20:11265826-11265827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182554315	chr20:11265877-11265878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184529725	chr20:11265887-11265888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189191406	chr20:11265947-11265948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535216727	chr20:11265981-11265982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555501407	chr20:11266001-11266002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575079576	chr20:11266002-11266003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567217384	chr20:11266011-11266012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564035267	chr20:11266021-11266022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536457482	chr20:11266046-11266047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149292692	chr20:11266073-11266074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6078119	chr20:11266090-11266091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144311953	chr20:11266091-11266092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559492674	chr20:11266103-11266104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528557654	chr20:11266129-11266130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11258600-11270200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:11266000-11269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:11267400-11268200	Enhancers	Cortex derived primary cultured neurospheres	brain

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