Variant report

Variant	esv2485082
Chromosome Location	chr20:29806791-29833789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3575 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3575 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574260720	chr20:29806804-29806805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574524039	chr20:29806805-29806806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540241889	chr20:29806808-29806809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200023164	chr20:29806809-29806810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560042574	chr20:29806810-29806811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528805508	chr20:29806834-29806835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143919527	chr20:29806853-29806854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148615595	chr20:29806865-29806866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530890494	chr20:29806868-29806869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147765699	chr20:29806869-29806870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567314293	chr20:29806935-29806936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs529998093	chr20:29806939-29806940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539423631	chr20:29806940-29806941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141472317	chr20:29806943-29806944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147626826	chr20:29806972-29806973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200549633	chr20:29806975-29806976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558442399	chr20:29806983-29806984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187700692	chr20:29806984-29806985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537534621	chr20:29807014-29807015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144513163	chr20:29807023-29807024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574587710	chr20:29807030-29807031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540206407	chr20:29807045-29807046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553819814	chr20:29807049-29807050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573443095	chr20:29807052-29807053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554949377	chr20:29807055-29807056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565337123	chr20:29807075-29807076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189018827	chr20:29807082-29807083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182575156	chr20:29807084-29807085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531179242	chr20:29807090-29807091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs118194773	chr20:29807094-29807095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544413204	chr20:29807098-29807099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561017462	chr20:29807100-29807101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575269101	chr20:29807109-29807110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546570401	chr20:29807110-29807111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568764899	chr20:29807114-29807115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138203830	chr20:29807123-29807124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs532301175	chr20:29807159-29807160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552485379	chr20:29807160-29807161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533456712	chr20:29807171-29807172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201307489	chr20:29807175-29807176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs6059891	chr20:29807179-29807180	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537997221	chr20:29807194-29807195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79171460	chr20:29807198-29807199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537245936	chr20:29807203-29807204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193250805	chr20:29807226-29807227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150541615	chr20:29807231-29807232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185687012	chr20:29807236-29807237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576821815	chr20:29807240-29807241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538957281	chr20:29807261-29807262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139035839	chr20:29807263-29807264	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:215 , 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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