Variant report

Variant	nsv964387
Chromosome Location	chr20:26243410-26258677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 626 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556763977	chr20:26253010-26253011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76570567	chr20:26253014-26253015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567118666	chr20:26253027-26253028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199624116	chr20:26253036-26253037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77025872	chr20:26253054-26253055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536178993	chr20:26253070-26253071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80174233	chr20:26253071-26253072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79686727	chr20:26253073-26253074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76159246	chr20:26253079-26253080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552855099	chr20:26253120-26253121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200954390	chr20:26253135-26253136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112743186	chr20:26253138-26253139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368301989	chr20:26253139-26253140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201274885	chr20:26253157-26253158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62199349	chr20:26253168-26253169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6138842	chr20:26253179-26253180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573046409	chr20:26253184-26253185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62199350	chr20:26253209-26253210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544700753	chr20:26253219-26253220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558492743	chr20:26253233-26253234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111844894	chr20:26253246-26253247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74574933	chr20:26253257-26253258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80032329	chr20:26253288-26253289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78405053	chr20:26253295-26253296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74192074	chr20:26253316-26253317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79280160	chr20:26253321-26253322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1819070	chr20:26253324-26253325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200785899	chr20:26253334-26253335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112096929	chr20:26253350-26253351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73603477	chr20:26253355-26253356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200282340	chr20:26253360-26253361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75640233	chr20:26253368-26253369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74343659	chr20:26253374-26253375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78316771	chr20:26253385-26253386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544293963	chr20:26253411-26253412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376036314	chr20:26253415-26253416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1819069	chr20:26253425-26253426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543197866	chr20:26253439-26253440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560113706	chr20:26253450-26253451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199714951	chr20:26253451-26253452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77928666	chr20:26253457-26253458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376542760	chr20:26253465-26253466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201591433	chr20:26253468-26253469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368918673	chr20:26253476-26253477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551521135	chr20:26253482-26253483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571596628	chr20:26253483-26253484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79400504	chr20:26253499-26253500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187938323	chr20:26253500-26253501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113920970	chr20:26253515-26253516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150266421	chr20:26253521-26253522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:26256600-26257600	Active TSS	Spleen	Spleen
4	chr20:26257000-26257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:26257000-26257400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:26257200-26257400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
8	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr20:26257200-26257800	Active TSS	Osteobl	bone
10	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
12	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
17	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
19	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
21	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
22	chr20:26257800-26259000	Weak transcription	Osteobl	bone
23	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
24	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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