Variant report

Variant	nsv962601
Chromosome Location	chr20:26254260-26258677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 490 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2376698	chr20:26254262-26254263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373368082	chr20:26254264-26254265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80083420	chr20:26254269-26254270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376731622	chr20:26254294-26254295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77668833	chr20:26254296-26254297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4013273	chr20:26254297-26254298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111728504	chr20:26254301-26254302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112340639	chr20:26254308-26254309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544213166	chr20:26254309-26254310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560931333	chr20:26254310-26254311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530161982	chr20:26254316-26254317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113198752	chr20:26254322-26254323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546680528	chr20:26254325-26254326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3953971	chr20:26254326-26254327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560344173	chr20:26254332-26254333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376514192	chr20:26254336-26254337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532339452	chr20:26254361-26254362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78151667	chr20:26254371-26254372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2376697	chr20:26254376-26254377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373742761	chr20:26254377-26254378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202152395	chr20:26254391-26254392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4013287	chr20:26254392-26254393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4013286	chr20:26254400-26254401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74620613	chr20:26254414-26254415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182688821	chr20:26254424-26254425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377434400	chr20:26254431-26254432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2376696	chr20:26254453-26254454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192219077	chr20:26254458-26254459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2376695	chr20:26254464-26254465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2376694	chr20:26254465-26254466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538124736	chr20:26254474-26254475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375691577	chr20:26254485-26254486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146187143	chr20:26254486-26254487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368321229	chr20:26254491-26254492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111251598	chr20:26254496-26254497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7362112	chr20:26254511-26254512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533913476	chr20:26254512-26254513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553837696	chr20:26254514-26254515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2376693	chr20:26254516-26254517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576815295	chr20:26254518-26254519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76436913	chr20:26254520-26254521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367996336	chr20:26254539-26254540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76035699	chr20:26254540-26254541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4013285	chr20:26254543-26254544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113868382	chr20:26254545-26254546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374736910	chr20:26254555-26254556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564543575	chr20:26254559-26254560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78949650	chr20:26254568-26254569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79207600	chr20:26254593-26254594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2376692	chr20:26254597-26254598	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:26 , 50 per page) page: 1

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

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