Variant report

Variant	esv10166
Chromosome Location	chr20:29506899-29511009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73608563	chr20:29507614-29507615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60353472	chr20:29507638-29507639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575743867	chr20:29507642-29507643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6087195	chr20:29507669-29507670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73608564	chr20:29507676-29507677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544440916	chr20:29507680-29507681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561003586	chr20:29507688-29507689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530139533	chr20:29507701-29507702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67444553	chr20:29507704-29507705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374201380	chr20:29507722-29507723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6087196	chr20:29507723-29507724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117088639	chr20:29507725-29507726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560303246	chr20:29507748-29507749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4621231	chr20:29507749-29507750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147596622	chr20:29507757-29507758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532575806	chr20:29507758-29507759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369244488	chr20:29507763-29507764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575551928	chr20:29507767-29507768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67342386	chr20:29507771-29507772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386813645	chr20:29507776-29507777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73608565	chr20:29507777-29507778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371966542	chr20:29507798-29507799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548407553	chr20:29507817-29507818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568133847	chr20:29507841-29507842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533888344	chr20:29507848-29507849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4086082	chr20:29507859-29507860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553866187	chr20:29507864-29507865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371360027	chr20:29507909-29507910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372164342	chr20:29507910-29507911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62198157	chr20:29507912-29507913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539463683	chr20:29507942-29507943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188797488	chr20:29507956-29507957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575539874	chr20:29507966-29507967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78826590	chr20:29507967-29507968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75485267	chr20:29507975-29507976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147850297	chr20:29508009-29508010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73608569	chr20:29508010-29508011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554766473	chr20:29508015-29508016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199912151	chr20:29508028-29508029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574560404	chr20:29508044-29508045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1923054	chr20:29508045-29508046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550626575	chr20:29508047-29508048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73608571	chr20:29508059-29508060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73608572	chr20:29508060-29508061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6057239	chr20:29508072-29508073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs62198158	chr20:29508090-29508091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112055644	chr20:29508103-29508104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560663715	chr20:29508124-29508125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532398785	chr20:29508151-29508152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368665716	chr20:29508161-29508162	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29507600-29509400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:29509400-29515000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr20:29510000-29510800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr20:29510000-29511000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr20:29510400-29510600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr20:29510400-29511000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:29510800-29518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr20:29510800-29518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:29511000-29512000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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