Variant report

Variant	esv3495309
Chromosome Location	chr20:29585357-29591535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29591220..29591720-chr4:190825717..190826283,2	MCF-7	breast:
2	chr20:29520570..29521135-chr20:29591146..29591730,2	K562	blood:

Extended variants
information (count: 826 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114549190	chr20:29585360-29585361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73605363	chr20:29585366-29585367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201857143	chr20:29585369-29585370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80062475	chr20:29585373-29585374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75050148	chr20:29585374-29585375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549967365	chr20:29585375-29585376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73605364	chr20:29585384-29585385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67662214	chr20:29585391-29585392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73605365	chr20:29585398-29585399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73605366	chr20:29585402-29585403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73605367	chr20:29585405-29585406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112026819	chr20:29585406-29585407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6118896	chr20:29585433-29585434	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6057163	chr20:29585446-29585447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77069761	chr20:29585447-29585448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554895254	chr20:29585450-29585451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201735328	chr20:29585451-29585452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73605368	chr20:29585452-29585453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571753895	chr20:29585472-29585473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73605369	chr20:29585475-29585476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534210849	chr20:29585496-29585497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66790403	chr20:29585499-29585500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146863590	chr20:29585505-29585506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73605370	chr20:29585513-29585514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73605371	chr20:29585517-29585518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73605372	chr20:29585522-29585523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201984403	chr20:29585533-29585534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73605373	chr20:29585552-29585553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370998679	chr20:29585560-29585561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73605374	chr20:29585567-29585568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73605375	chr20:29585574-29585575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73605376	chr20:29585598-29585599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554202063	chr20:29585601-29585602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187421082	chr20:29585604-29585605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2379723	chr20:29585641-29585642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577346304	chr20:29585642-29585643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73605377	chr20:29585646-29585647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78452525	chr20:29585648-29585649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563114291	chr20:29585653-29585654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2379722	chr20:29585655-29585656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2379721	chr20:29585656-29585657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142440823	chr20:29585660-29585661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542348329	chr20:29585662-29585663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562063145	chr20:29585672-29585673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527729798	chr20:29585677-29585678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373986986	chr20:29585684-29585685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200303908	chr20:29585696-29585697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73605378	chr20:29585698-29585699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192885983	chr20:29585703-29585704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547645654	chr20:29585707-29585708	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29580600-29602600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr20:29581800-29598800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:29584400-29588200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr20:29584600-29586200	Weak transcription	Pancreas	Pancrea
5	chr20:29584800-29586000	Weak transcription	Dnd41	blood
6	chr20:29586000-29587400	ZNF genes & repeats	Dnd41	blood
7	chr20:29586200-29586600	ZNF genes & repeats	Pancreas	Pancrea
8	chr20:29586400-29586600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:29586400-29587400	ZNF genes & repeats	Fetal Lung	lung
10	chr20:29586600-29591000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:29586600-29591000	Weak transcription	Pancreas	Pancrea
12	chr20:29586800-29587000	Weak transcription	Gastric	stomach
13	chr20:29587200-29587400	Flanking Active TSS	Small Intestine	intestine
14	chr20:29587200-29587800	Enhancers	Aorta	Aorta
15	chr20:29587400-29590600	Enhancers	Dnd41	blood
16	chr20:29587800-29588000	Flanking Active TSS	Aorta	Aorta
17	chr20:29588000-29588200	Weak transcription	Gastric	stomach
18	chr20:29588000-29588800	Active TSS	Aorta	Aorta
19	chr20:29589000-29594000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr20:29589800-29590800	Weak transcription	Gastric	stomach
21	chr20:29590800-29591400	ZNF genes & repeats	Gastric	stomach
22	chr20:29591000-29591200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:29591000-29591200	ZNF genes & repeats	Pancreas	Pancrea
24	chr20:29591200-29595800	Enhancers	Dnd41	blood
25	chr20:29591400-29592400	Weak transcription	Gastric	stomach
26	chr20:29591400-29593600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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