Variant report

Variant	nsv585900
Chromosome Location	chr20:29805820-29832022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3524 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3524 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6120125	chr20:29805820-29805821	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369576010	chr20:29805822-29805823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs398558	chr20:29805825-29805826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539976638	chr20:29805828-29805829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs398566	chr20:29805831-29805832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187257866	chr20:29805842-29805843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28970657	chr20:29805855-29805856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541995455	chr20:29805856-29805857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28971872	chr20:29805858-29805859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572512357	chr20:29805883-29805884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541444653	chr20:29805884-29805885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564323429	chr20:29805886-29805887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538758671	chr20:29805890-29805891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117780444	chr20:29805922-29805923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368690130	chr20:29805926-29805927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187511711	chr20:29805930-29805931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111220144	chr20:29805946-29805947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552108293	chr20:29805949-29805950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565329302	chr20:29805957-29805958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368111776	chr20:29805969-29805970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79806962	chr20:29805981-29805982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs6120236	chr20:29805985-29805986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550965768	chr20:29805990-29805991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571098038	chr20:29805993-29805994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77169004	chr20:29805996-29805997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539762584	chr20:29806005-29806006	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556703501	chr20:29806016-29806017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565964668	chr20:29806027-29806028	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541939977	chr20:29806036-29806037	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs80308078	chr20:29806043-29806044	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114305950	chr20:29806065-29806066	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555855066	chr20:29806071-29806072	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572573673	chr20:29806074-29806075	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541406011	chr20:29806079-29806080	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111220121	chr20:29806087-29806088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140404984	chr20:29806111-29806112	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372438599	chr20:29806113-29806114	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558198973	chr20:29806115-29806116	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144764183	chr20:29806116-29806117	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192003577	chr20:29806123-29806124	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577853022	chr20:29806124-29806125	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543378691	chr20:29806151-29806152	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563494330	chr20:29806159-29806160	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529118930	chr20:29806165-29806166	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192021316	chr20:29806183-29806184	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144885350	chr20:29806186-29806187	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528195384	chr20:29806195-29806196	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs11906871	chr20:29806241-29806242	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs6120317	chr20:29806255-29806256	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62654589	chr20:29806256-29806257	ZNF genes & repeats Active TSS	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:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29806800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
2	chr20:29803800-29807000	ZNF genes & repeats	Colonic Mucosa	Colon
3	chr20:29803800-29809400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:29803800-29809800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr20:29803800-29809800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
6	chr20:29803800-29811000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
7	chr20:29803800-29811200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:29803800-29811200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
9	chr20:29803800-29814000	ZNF genes & repeats	Fetal Heart	heart
10	chr20:29803800-29818600	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
16	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
17	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
18	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
28	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
32	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr20:29804000-29807000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr20:29804000-29809200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:29804000-29810600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr20:29804000-29814000	ZNF genes & repeats	GM12878-XiMat	blood
42	chr20:29804000-29833200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr20:29804000-29833200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr20:29804000-29833200	ZNF genes & repeats	Dnd41	blood
45	chr20:29804000-29833400	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr20:29804000-29833400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr20:29804000-29833400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr20:29804000-29833400	ZNF genes & repeats	Fetal Brain Male	brain
49	chr20:29804000-29833400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr20:29804000-29833600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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