Variant report

Variant	esv3445374
Chromosome Location	chr20:29803909-29834289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4004 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4004 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201392978	chr20:29803911-29803912	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529567844	chr20:29803924-29803925	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201207771	chr20:29803926-29803927	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201564117	chr20:29803934-29803935	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377067604	chr20:29803941-29803942	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367564615	chr20:29803942-29803943	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs377224861	chr20:29803944-29803945	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371815338	chr20:29803947-29803948	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370362981	chr20:29803948-29803949	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62654587	chr20:29803952-29803953	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111220118	chr20:29803963-29803964	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62654588	chr20:29803977-29803978	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111212306	chr20:29803980-29803981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs199731992	chr20:29804016-29804017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566264606	chr20:29804019-29804020	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115857059	chr20:29804022-29804023	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558384566	chr20:29804037-29804038	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78763777	chr20:29804047-29804048	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564512985	chr20:29804071-29804072	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73117395	chr20:29804073-29804074	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547155763	chr20:29804088-29804089	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573982505	chr20:29804096-29804097	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75973079	chr20:29804117-29804118	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79166426	chr20:29804118-29804119	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143175111	chr20:29804124-29804125	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370596059	chr20:29804126-29804127	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552890173	chr20:29804128-29804129	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529732525	chr20:29804129-29804130	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs201800594	chr20:29804148-29804149	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181434859	chr20:29804161-29804162	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201300666	chr20:29804162-29804163	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544758279	chr20:29804168-29804169	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564753348	chr20:29804176-29804177	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530505331	chr20:29804185-29804186	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544003746	chr20:29804199-29804200	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560935091	chr20:29804203-29804204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368953673	chr20:29804204-29804205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200477402	chr20:29804206-29804207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28503795	chr20:29804208-29804209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560040376	chr20:29804213-29804214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78046477	chr20:29804219-29804220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528814518	chr20:29804223-29804224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78593956	chr20:29804234-29804235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74508379	chr20:29804236-29804237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75866307	chr20:29804252-29804253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78041747	chr20:29804254-29804255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201255188	chr20:29804286-29804287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28623730	chr20:29804293-29804294	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571906224	chr20:29804312-29804313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537533158	chr20:29804313-29804314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29804200	Active TSS	Right Ventricle	heart
2	chr20:29803800-29804800	ZNF genes & repeats	K562	blood
3	chr20:29803800-29805000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:29803800-29805000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
5	chr20:29803800-29805200	ZNF genes & repeats	Colon Smooth Muscle	Colon
6	chr20:29803800-29806800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
7	chr20:29803800-29807000	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr20:29803800-29809400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:29803800-29809800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr20:29803800-29809800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
11	chr20:29803800-29811000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr20:29803800-29811200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:29803800-29811200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:29803800-29814000	ZNF genes & repeats	Fetal Heart	heart
15	chr20:29803800-29818600	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
22	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
23	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
33	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
37	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr20:29804000-29804200	Active TSS	NHDF-Ad	bronchial
44	chr20:29804000-29804800	ZNF genes & repeats	A549	lung
45	chr20:29804000-29805200	ZNF genes & repeats	Spleen	Spleen
46	chr20:29804000-29805200	ZNF genes & repeats	HUVEC	blood vessel
47	chr20:29804000-29805400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr20:29804000-29807000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr20:29804000-29809200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr20:29804000-29810600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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