Variant report

Variant	esv3384955
Chromosome Location	chr20:29580771-29582900
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	chr20:29582149..29584387-chr4:190823886..190825724,2	MCF-7	breast:
2	chr20:29582669..29584786-chr4:190825212..190827819,2	MCF-7	breast:

Extended variants
information (count: 266 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73620596	chr20:29580771-29580772	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111721690	chr20:29580773-29580774	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564456358	chr20:29580775-29580776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144562895	chr20:29580776-29580777	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534428688	chr20:29580778-29580779	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10451731	chr20:29580789-29580790	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200735345	chr20:29580796-29580797	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73620597	chr20:29580817-29580818	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73620598	chr20:29580822-29580823	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557291567	chr20:29580824-29580825	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62197578	chr20:29580850-29580851	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147442218	chr20:29580865-29580866	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577221614	chr20:29580872-29580873	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76840147	chr20:29580883-29580884	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73620600	chr20:29580886-29580887	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540124151	chr20:29580891-29580892	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73620601	chr20:29580898-29580899	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556626857	chr20:29580912-29580913	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367770324	chr20:29580915-29580916	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2424866	chr20:29580916-29580917	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4588262	chr20:29580917-29580918	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138483831	chr20:29580921-29580922	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4315604	chr20:29580922-29580923	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542087708	chr20:29580928-29580929	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73622303	chr20:29580933-29580934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201138920	chr20:29580946-29580947	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75210704	chr20:29580954-29580955	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73622304	chr20:29580957-29580958	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562292072	chr20:29580958-29580959	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76784683	chr20:29580977-29580978	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10451732	chr20:29580978-29580979	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78139974	chr20:29580985-29580986	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73622305	chr20:29580986-29580987	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73622306	chr20:29580987-29580988	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62197579	chr20:29581010-29581011	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142205641	chr20:29581011-29581012	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78121221	chr20:29581019-29581020	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77564733	chr20:29581021-29581022	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34720771	chr20:29581024-29581025	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541538924	chr20:29581038-29581039	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78235943	chr20:29581047-29581048	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4471963	chr20:29581048-29581049	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564467416	chr20:29581057-29581058	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62197596	chr20:29581062-29581063	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75455803	chr20:29581071-29581072	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113801877	chr20:29581073-29581074	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73622307	chr20:29581089-29581090	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76311649	chr20:29581101-29581102	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550033669	chr20:29581131-29581132	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73622308	chr20:29581137-29581138	ZNF genes & repeats Weak transcription Enhancers	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29580600-29584800	Enhancers	Dnd41	blood
2	chr20:29580600-29602600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr20:29580800-29581000	Enhancers	Adipose Nuclei	Adipose
4	chr20:29580800-29584800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr20:29581000-29582600	Weak transcription	Spleen	Spleen
6	chr20:29581200-29582000	Weak transcription	Adipose Nuclei	Adipose
7	chr20:29581800-29598800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:29582000-29583000	ZNF genes & repeats	Fetal Brain Male	brain
9	chr20:29582000-29583200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr20:29582200-29582400	Active TSS	Gastric	stomach
11	chr20:29582200-29583000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:29582200-29583000	ZNF genes & repeats	Aorta	Aorta
13	chr20:29582200-29585000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:29582400-29582600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr20:29582400-29582800	Bivalent/Poised TSS	Gastric	stomach
16	chr20:29582400-29583000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr20:29582400-29583000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr20:29582600-29583000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:29582600-29583000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr20:29582600-29583000	ZNF genes & repeats	Spleen	Spleen
21	chr20:29582800-29583000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:29582800-29583000	Bivalent Enhancer	Brain Angular Gyrus	brain
23	chr20:29582800-29583000	Bivalent Enhancer	Esophagus	oesophagus
24	chr20:29582800-29583000	Flanking Bivalent TSS/Enh	Gastric	stomach
25	chr20:29582800-29583000	Bivalent Enhancer	Left Ventricle	heart
26	chr20:29582800-29583000	ZNF genes & repeats	Pancreas	Pancrea
27	chr20:29582800-29583000	ZNF genes & repeats	Psoas Muscle	Psoas

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