Variant report

Variant	nsv436312
Chromosome Location	chr20:26293003-26311125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2570 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36191287	chr20:26293006-26293007	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6138859	chr20:26293015-26293016	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547303502	chr20:26293016-26293017	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566918023	chr20:26293024-26293025	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539037647	chr20:26293036-26293037	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199569332	chr20:26293041-26293042	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112410444	chr20:26293043-26293044	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200823809	chr20:26293057-26293058	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113232230	chr20:26293063-26293064	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558870127	chr20:26293067-26293068	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375850902	chr20:26293069-26293070	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373387373	chr20:26293076-26293077	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569265306	chr20:26293080-26293081	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538307087	chr20:26293081-26293082	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554494229	chr20:26293083-26293084	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62198423	chr20:26293086-26293087	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370422858	chr20:26293090-26293091	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201518550	chr20:26293092-26293093	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540178104	chr20:26293094-26293095	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553650906	chr20:26293102-26293103	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199986359	chr20:26293113-26293114	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113228661	chr20:26293116-26293117	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368808790	chr20:26293126-26293127	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545491845	chr20:26293128-26293129	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184569355	chr20:26293135-26293136	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200859991	chr20:26293138-26293139	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547476958	chr20:26293152-26293153	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201363843	chr20:26293161-26293162	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188975070	chr20:26293166-26293167	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531329594	chr20:26293172-26293173	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147901254	chr20:26293180-26293181	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565589625	chr20:26293224-26293225	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530311874	chr20:26293225-26293226	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181371918	chr20:26293226-26293227	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547168948	chr20:26293227-26293228	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567179929	chr20:26293228-26293229	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184153048	chr20:26293231-26293232	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs113687497	chr20:26293236-26293237	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552308104	chr20:26293242-26293243	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569210578	chr20:26293247-26293248	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537987183	chr20:26293250-26293251	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111779505	chr20:26293256-26293257	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555039578	chr20:26293261-26293262	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147016226	chr20:26293265-26293266	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373101476	chr20:26293266-26293267	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201178347	chr20:26293272-26293273	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533743614	chr20:26293280-26293281	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs202118128	chr20:26293311-26293312	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200369511	chr20:26293320-26293321	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201367793	chr20:26293325-26293326	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26286200-26293200	Weak transcription	K562	blood
2	chr20:26288200-26293200	Weak transcription	NH-A	brain
3	chr20:26289800-26293200	Weak transcription	HUVEC	blood vessel
4	chr20:26290200-26293600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:26290400-26293200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:26290600-26293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:26291800-26293400	Enhancers	Dnd41	blood
8	chr20:26292000-26293200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr20:26292000-26293800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr20:26292200-26293800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr20:26292400-26293800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr20:26292600-26293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr20:26293000-26293200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:26293000-26293400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:26293000-26293400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr20:26293000-26293800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr20:26293000-26293800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr20:26293000-26293800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr20:26293000-26293800	ZNF genes & repeats	Left Ventricle	heart
20	chr20:26293200-26293400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr20:26293200-26293400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr20:26293200-26293400	Weak transcription	Fetal Kidney	kidney
23	chr20:26293200-26293600	Active TSS	HSMMtube	muscle
24	chr20:26293200-26293800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr20:26293200-26293800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:26293200-26293800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr20:26293200-26293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:26293200-26293800	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr20:26293200-26293800	ZNF genes & repeats	Hela-S3	cervix
30	chr20:26293200-26293800	ZNF genes & repeats	HUVEC	blood vessel
31	chr20:26293200-26293800	ZNF genes & repeats	K562	blood
32	chr20:26293200-26293800	ZNF genes & repeats	NH-A	brain
33	chr20:26293200-26294000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
34	chr20:26293200-26294000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:26293200-26294000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr20:26293400-26293600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr20:26293400-26293800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:26293400-26293800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:26293400-26293800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr20:26293400-26293800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:26293400-26293800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr20:26293400-26293800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr20:26293400-26293800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr20:26293400-26293800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr20:26293400-26293800	ZNF genes & repeats	Fetal Brain Male	brain
46	chr20:26293400-26293800	ZNF genes & repeats	A549	lung
47	chr20:26293400-26294000	Flanking Active TSS	Dnd41	blood
48	chr20:26293600-26293800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr20:26293600-26293800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr20:26293600-26293800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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