Variant report

Variant	esv3372019
Chromosome Location	chr20:41395488-41397636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191916141	chr20:41395521-41395522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529234389	chr20:41395526-41395527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138929944	chr20:41395532-41395533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184114346	chr20:41395576-41395577	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6065534	chr20:41395579-41395580	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76955459	chr20:41395619-41395620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571836955	chr20:41395647-41395648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34891076	chr20:41395669-41395670	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554067321	chr20:41395711-41395712	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142179210	chr20:41395735-41395736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543878072	chr20:41395742-41395743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146361571	chr20:41395778-41395779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572361545	chr20:41395899-41395900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575715872	chr20:41395901-41395902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139649821	chr20:41395906-41395907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564757700	chr20:41395948-41395949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561893665	chr20:41395964-41395965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577179733	chr20:41395966-41395967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144298276	chr20:41395986-41395987	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529337936	chr20:41395992-41395993	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144263583	chr20:41396108-41396109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563006413	chr20:41396188-41396189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6030459	chr20:41396192-41396193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6030460	chr20:41396211-41396212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531859937	chr20:41396226-41396227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6030461	chr20:41396251-41396252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34028642	chr20:41396259-41396260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187509696	chr20:41396275-41396276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35145103	chr20:41396328-41396329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571815545	chr20:41396433-41396434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148720702	chr20:41396490-41396491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374780128	chr20:41396513-41396514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59241194	chr20:41396516-41396517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142257231	chr20:41396529-41396530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7347809	chr20:41396559-41396560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192720345	chr20:41396586-41396587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79243793	chr20:41396615-41396616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549879040	chr20:41396618-41396619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147607909	chr20:41396655-41396656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398035750	chr20:41396664-41396665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61353643	chr20:41396665-41396666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6072864	chr20:41396713-41396714	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555754257	chr20:41396721-41396722	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559939904	chr20:41396744-41396745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151017034	chr20:41396766-41396767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183938454	chr20:41396767-41396768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527561990	chr20:41396789-41396790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540868393	chr20:41396822-41396823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561266019	chr20:41396831-41396832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116529070	chr20:41396846-41396847	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41393000-41397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:41394800-41397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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