Variant report

Variant	esv3454794
Chromosome Location	chr20:25737235-25738070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80295386	chr20:25737240-25737241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541289889	chr20:25737241-25737242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376202791	chr20:25737243-25737244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2890393	chr20:25737263-25737264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62213483	chr20:25737264-25737265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183312971	chr20:25737285-25737286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62213484	chr20:25737306-25737307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75009628	chr20:25737307-25737308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146192334	chr20:25737318-25737319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184708073	chr20:25737326-25737327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199630247	chr20:25737327-25737328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4009470	chr20:25737328-25737329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563617064	chr20:25737340-25737341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78976416	chr20:25737344-25737345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139841036	chr20:25737366-25737367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80001809	chr20:25737379-25737380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76644473	chr20:25737384-25737385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6132864	chr20:25737388-25737389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs563243363	chr20:25737396-25737397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74665423	chr20:25737423-25737424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112320784	chr20:25737448-25737449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112778363	chr20:25737456-25737457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145533575	chr20:25737463-25737464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370734400	chr20:25737465-25737466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548902420	chr20:25737470-25737471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147816911	chr20:25737482-25737483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534820685	chr20:25737505-25737506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74809945	chr20:25737506-25737507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11087527	chr20:25737530-25737531	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs6083940	chr20:25737537-25737538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537020644	chr20:25737547-25737548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556950354	chr20:25737558-25737559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573642618	chr20:25737563-25737564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74360158	chr20:25737577-25737578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536390172	chr20:25737581-25737582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375012060	chr20:25737603-25737604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572569257	chr20:25737641-25737642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113492097	chr20:25737643-25737644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373236998	chr20:25737648-25737649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541251349	chr20:25737652-25737653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376440709	chr20:25737653-25737654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7273492	chr20:25737655-25737656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186611530	chr20:25737659-25737660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577953843	chr20:25737660-25737661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202030612	chr20:25737663-25737664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543403671	chr20:25737685-25737686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373358665	chr20:25737697-25737698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563750771	chr20:25737699-25737700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8118951	chr20:25737700-25737701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78700607	chr20:25737728-25737729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25732200-25737800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr20:25732400-25737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25732600-25737800	Weak transcription	Thymus	Thymus
4	chr20:25737400-25737800	Weak transcription	Adipose Nuclei	Adipose
5	chr20:25737800-25738000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:25737800-25738000	Bivalent/Poised TSS	Gastric	stomach
7	chr20:25737800-25738000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr20:25737800-25738000	ZNF genes & repeats	Thymus	Thymus
9	chr20:25737800-25738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:25737800-25738200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:25737800-25738200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:25738000-25738200	Flanking Bivalent TSS/Enh	Gastric	stomach

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