Variant report

Variant	nsv585823
Chromosome Location	chr20:26279566-26302594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2599 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:2599 , 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	rs6037358	chr20:26279566-26279567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558668053	chr20:26279568-26279569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201721794	chr20:26279573-26279574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553031602	chr20:26279574-26279575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373763860	chr20:26279578-26279579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375803360	chr20:26279589-26279590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563743454	chr20:26279612-26279613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199660290	chr20:26279633-26279634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200606356	chr20:26279645-26279646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111978781	chr20:26279654-26279655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201722419	chr20:26279656-26279657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112844114	chr20:26279665-26279666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149965935	chr20:26279671-26279672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201660984	chr20:26279674-26279675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111278965	chr20:26279678-26279679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368027903	chr20:26279699-26279700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528506722	chr20:26279700-26279701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551480468	chr20:26279702-26279703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571569654	chr20:26279706-26279707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201747539	chr20:26279713-26279714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76696606	chr20:26279725-26279726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570173959	chr20:26279731-26279732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534618180	chr20:26279734-26279735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77263166	chr20:26279741-26279742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77528030	chr20:26279745-26279746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6138852	chr20:26279758-26279759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142172712	chr20:26279772-26279773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138952932	chr20:26279774-26279775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181544741	chr20:26279779-26279780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576081716	chr20:26279784-26279785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146054808	chr20:26279789-26279790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185852445	chr20:26279804-26279805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553347123	chr20:26279856-26279857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113865537	chr20:26279863-26279864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112651396	chr20:26279870-26279871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566771225	chr20:26279877-26279878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139624788	chr20:26279880-26279881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145162347	chr20:26279883-26279884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200149342	chr20:26279890-26279891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113376981	chr20:26279896-26279897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201791238	chr20:26279903-26279904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6138853	chr20:26279910-26279911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558275704	chr20:26279916-26279917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188663320	chr20:26279925-26279926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199936571	chr20:26279931-26279932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543992947	chr20:26279932-26279933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201307606	chr20:26280014-26280015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368218056	chr20:26280048-26280049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542803098	chr20:26280062-26280063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559666337	chr20:26280110-26280111	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:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26278000-26280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:26278800-26280200	Weak transcription	Dnd41	blood
3	chr20:26279400-26280600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:26279400-26285400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr20:26280200-26280400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr20:26280200-26280400	ZNF genes & repeats	HepG2	liver
7	chr20:26280200-26280800	ZNF genes & repeats	Dnd41	blood
8	chr20:26280200-26281000	ZNF genes & repeats	HUVEC	blood vessel
9	chr20:26280400-26280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:26280400-26280800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr20:26280800-26285600	Weak transcription	Dnd41	blood
12	chr20:26281000-26285400	Weak transcription	HUVEC	blood vessel
13	chr20:26285000-26285400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr20:26285200-26285600	Weak transcription	HepG2	liver
15	chr20:26285400-26285600	Weak transcription	K562	blood
16	chr20:26285400-26286200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr20:26285400-26286200	ZNF genes & repeats	HUVEC	blood vessel
18	chr20:26285400-26287600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr20:26285600-26286000	ZNF genes & repeats	HepG2	liver
20	chr20:26285600-26289000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr20:26285600-26290800	Enhancers	Dnd41	blood
22	chr20:26285800-26286200	Active TSS	Hela-S3	cervix
23	chr20:26285800-26286200	ZNF genes & repeats	K562	blood
24	chr20:26285800-26286200	ZNF genes & repeats	NH-A	brain
25	chr20:26285800-26286200	ZNF genes & repeats	Osteobl	bone
26	chr20:26286200-26287400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr20:26286200-26287600	Weak transcription	HUVEC	blood vessel
28	chr20:26286200-26287600	Weak transcription	NH-A	brain
29	chr20:26286200-26287800	Weak transcription	Osteobl	bone
30	chr20:26286200-26288800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr20:26286200-26293200	Weak transcription	K562	blood
32	chr20:26287400-26288000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr20:26287400-26288400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr20:26287400-26288600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr20:26287400-26289000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr20:26287600-26288000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr20:26287600-26288200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr20:26287600-26288200	ZNF genes & repeats	NH-A	brain
39	chr20:26287600-26288400	ZNF genes & repeats	HUVEC	blood vessel
40	chr20:26287600-26288800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr20:26287800-26288000	ZNF genes & repeats	Osteobl	bone
42	chr20:26287800-26288200	ZNF genes & repeats	GM12878-XiMat	blood
43	chr20:26287800-26288800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr20:26287800-26290000	ZNF genes & repeats	HepG2	liver
45	chr20:26288000-26288200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:26288000-26290600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr20:26288200-26293200	Weak transcription	NH-A	brain
48	chr20:26288400-26289600	Weak transcription	HUVEC	blood vessel
49	chr20:26288600-26290000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:26288800-26289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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