Variant report

Variant	esv3374921
Chromosome Location	chr20:29550516-29553064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550272072	chr20:29550530-29550531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6057276	chr20:29550531-29550532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6057277	chr20:29550565-29550566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368992953	chr20:29550581-29550582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112939212	chr20:29550619-29550620	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146992581	chr20:29550625-29550626	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372107177	chr20:29550626-29550627	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3855789	chr20:29550701-29550702	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566074007	chr20:29550756-29550757	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534888070	chr20:29550759-29550760	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544620460	chr20:29550766-29550767	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558336064	chr20:29550769-29550770	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7347588	chr20:29550792-29550793	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3895225	chr20:29550795-29550796	Bivalent/Poised TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543915538	chr20:29550800-29550801	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12481195	chr20:29550804-29550805	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559682197	chr20:29550805-29550806	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2379764	chr20:29550824-29550825	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4010802	chr20:29550835-29550836	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4405827	chr20:29550850-29550851	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73613113	chr20:29550858-29550859	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565104108	chr20:29550862-29550863	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73613114	chr20:29550863-29550864	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73613115	chr20:29550883-29550884	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73613116	chr20:29550886-29550887	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75096138	chr20:29550902-29550903	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146471460	chr20:29550906-29550907	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113765043	chr20:29550917-29550918	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192288604	chr20:29550925-29550926	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73613117	chr20:29550956-29550957	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73613118	chr20:29550961-29550962	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78418405	chr20:29550970-29550971	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529632667	chr20:29550977-29550978	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184817562	chr20:29550980-29550981	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73613119	chr20:29550996-29550997	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548963802	chr20:29551022-29551023	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs73613120	chr20:29551027-29551028	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs73613121	chr20:29551083-29551084	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs73613122	chr20:29551112-29551113	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs535337582	chr20:29551126-29551127	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs74505160	chr20:29551141-29551142	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs79252741	chr20:29551150-29551151	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs79809154	chr20:29551162-29551163	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs558038322	chr20:29551176-29551177	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs571787127	chr20:29551186-29551187	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537279417	chr20:29551192-29551193	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs368384652	chr20:29551203-29551204	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs574230181	chr20:29551243-29551244	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs371991191	chr20:29551252-29551253	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73114085	chr20:29551264-29551265	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Cancer	20164920	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29550400-29550800	Enhancers	Brain Substantia Nigra	brain
2	chr20:29550600-29550800	Enhancers	Brain Cingulate Gyrus	brain
3	chr20:29550600-29551600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr20:29550600-29551600	Active TSS	Brain Germinal Matrix	brain
5	chr20:29550600-29552200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr20:29550600-29552400	Active TSS	Brain Anterior Caudate	brain
7	chr20:29550800-29551000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:29550800-29551000	Enhancers	Placenta	Placenta
9	chr20:29550800-29551200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr20:29550800-29551400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr20:29550800-29551600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:29550800-29551600	Active TSS	Brain Hippocampus Middle	brain
13	chr20:29550800-29551600	Active TSS	Brain Substantia Nigra	brain
14	chr20:29550800-29551800	Active TSS	Brain Cingulate Gyrus	brain
15	chr20:29551000-29551200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:29551000-29551600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr20:29551000-29551800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr20:29551000-29551800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:29551200-29551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:29551600-29551800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:29551600-29552000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr20:29551600-29552000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr20:29551600-29552000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:29551600-29552200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr20:29551600-29552200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:29551600-29552200	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr20:29551800-29552000	ZNF genes & repeats	Pancreas	Pancrea
28	chr20:29551800-29552200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:29551800-29552200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr20:29551800-29552200	Enhancers	Fetal Brain Male	brain
31	chr20:29552000-29552200	Bivalent Enhancer	Brain Hippocampus Middle	brain
32	chr20:29552000-29552200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
33	chr20:29552000-29552200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr20:29552200-29556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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