Variant report

Variant	nsv435735
Chromosome Location	chr20:26292556-26310032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2397 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2397 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62198421	chr20:26292556-26292557	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62198422	chr20:26292560-26292561	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536914094	chr20:26292568-26292569	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147763242	chr20:26292570-26292571	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112332685	chr20:26292577-26292578	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553426240	chr20:26292578-26292579	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141043274	chr20:26292605-26292606	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111594062	chr20:26292629-26292630	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7351893	chr20:26292633-26292634	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200488753	chr20:26292644-26292645	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573257300	chr20:26292647-26292648	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7271265	chr20:26292652-26292653	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558780257	chr20:26292662-26292663	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs145715370	chr20:26292669-26292670	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77919771	chr20:26292682-26292683	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138848064	chr20:26292688-26292689	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575646573	chr20:26292705-26292706	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139407713	chr20:26292707-26292708	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142393146	chr20:26292713-26292714	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140930361	chr20:26292714-26292715	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143192386	chr20:26292720-26292721	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141621674	chr20:26292726-26292727	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150517493	chr20:26292730-26292731	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149171829	chr20:26292735-26292736	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138982258	chr20:26292739-26292740	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143087461	chr20:26292740-26292741	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574412397	chr20:26292741-26292742	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs59661184	chr20:26292749-26292750	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs183868138	chr20:26292782-26292783	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188253196	chr20:26292785-26292786	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201520739	chr20:26292801-26292802	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548601288	chr20:26292832-26292833	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372734805	chr20:26292862-26292863	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564013051	chr20:26292863-26292864	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531218453	chr20:26292864-26292865	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74920467	chr20:26292912-26292913	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1627757	chr20:26292921-26292922	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552834073	chr20:26292926-26292927	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544029280	chr20:26292934-26292935	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563351903	chr20:26292935-26292936	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1627109	chr20:26292948-26292949	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571050392	chr20:26292994-26292995	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200910205	chr20:26292996-26292997	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs36191287	chr20:26293006-26293007	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6138859	chr20:26293015-26293016	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547303502	chr20:26293016-26293017	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566918023	chr20:26293024-26293025	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539037647	chr20:26293036-26293037	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199569332	chr20:26293041-26293042	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112410444	chr20:26293043-26293044	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	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:246 , 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	chr20:26290600-26293000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr20:26290600-26293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr20:26291800-26293400	Enhancers	Dnd41	blood
9	chr20:26292000-26292600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:26292000-26293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr20:26292000-26293200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr20:26292000-26293800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
13	chr20:26292200-26292600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr20:26292200-26293800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr20:26292400-26293800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr20:26292600-26293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr20:26292600-26293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:26293000-26293200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:26293000-26293400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:26293000-26293400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr20:26293000-26293800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr20:26293000-26293800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr20:26293000-26293800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr20:26293000-26293800	ZNF genes & repeats	Left Ventricle	heart
25	chr20:26293200-26293400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr20:26293200-26293400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr20:26293200-26293400	Weak transcription	Fetal Kidney	kidney
28	chr20:26293200-26293600	Active TSS	HSMMtube	muscle
29	chr20:26293200-26293800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr20:26293200-26293800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:26293200-26293800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:26293200-26293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:26293200-26293800	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr20:26293200-26293800	ZNF genes & repeats	Hela-S3	cervix
35	chr20:26293200-26293800	ZNF genes & repeats	HUVEC	blood vessel
36	chr20:26293200-26293800	ZNF genes & repeats	K562	blood
37	chr20:26293200-26293800	ZNF genes & repeats	NH-A	brain
38	chr20:26293200-26294000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:26293200-26294000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:26293200-26294000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr20:26293400-26293600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr20:26293400-26293800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:26293400-26293800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr20:26293400-26293800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr20:26293400-26293800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:26293400-26293800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr20:26293400-26293800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr20:26293400-26293800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:26293400-26293800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr20:26293400-26293800	ZNF genes & repeats	Fetal Brain Male	brain

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