Variant report

Variant	esv3381712
Chromosome Location	chr20:29825636-29826034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538932850	chr20:29825636-29825637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536061245	chr20:29825638-29825639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146558681	chr20:29825649-29825650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79607651	chr20:29825654-29825655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544831971	chr20:29825663-29825664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79845660	chr20:29825673-29825674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561366774	chr20:29825699-29825700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574942733	chr20:29825704-29825705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369178668	chr20:29825717-29825718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111067070	chr20:29825722-29825723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548324926	chr20:29825732-29825733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570088895	chr20:29825742-29825743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532561617	chr20:29825743-29825744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552167102	chr20:29825756-29825757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs59944343	chr20:29825769-29825770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75943302	chr20:29825772-29825773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547934424	chr20:29825778-29825779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567923193	chr20:29825783-29825784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533604783	chr20:29825786-29825787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547112191	chr20:29825791-29825792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570330500	chr20:29825797-29825798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138663766	chr20:29825802-29825803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537143036	chr20:29825804-29825805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398088993	chr20:29825823-29825824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184016081	chr20:29825832-29825833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539453306	chr20:29825839-29825840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558975744	chr20:29825844-29825845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575940625	chr20:29825847-29825848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558554617	chr20:29825853-29825854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555161003	chr20:29825859-29825860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575104428	chr20:29825869-29825870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540706257	chr20:29825883-29825884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542324541	chr20:29825888-29825889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577154270	chr20:29825899-29825900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373291500	chr20:29825900-29825901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147382874	chr20:29825903-29825904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546224132	chr20:29825909-29825910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143658971	chr20:29825913-29825914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368042645	chr20:29825914-29825915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531590821	chr20:29825939-29825940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80336190	chr20:29825941-29825942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541734549	chr20:29825943-29825944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561516633	chr20:29825944-29825945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534666952	chr20:29825948-29825949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527510879	chr20:29825953-29825954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186206829	chr20:29825954-29825955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570566246	chr20:29825974-29825975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190165633	chr20:29825988-29825989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141965144	chr20:29825996-29825997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569560440	chr20:29826007-29826008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
7	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
8	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
18	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
22	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
23	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr20:29804000-29833200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr20:29804000-29833200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr20:29804000-29833200	ZNF genes & repeats	Dnd41	blood
31	chr20:29804000-29833400	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr20:29804000-29833400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
33	chr20:29804000-29833400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr20:29804000-29833400	ZNF genes & repeats	Fetal Brain Male	brain
35	chr20:29804000-29833400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr20:29804000-29833600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr20:29804200-29833400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr20:29804400-29833000	ZNF genes & repeats	HepG2	liver
39	chr20:29804400-29833200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr20:29804400-29833400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr20:29804600-29829800	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr20:29808400-29833200	ZNF genes & repeats	K562	blood
43	chr20:29811800-29833200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
44	chr20:29811800-29833200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:29812000-29826000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr20:29812000-29833200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr20:29812000-29833200	ZNF genes & repeats	HUVEC	blood vessel
48	chr20:29812000-29833400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr20:29813000-29833200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
50	chr20:29813400-29833000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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