Variant report

Variant	esv3500621
Chromosome Location	chr20:40783067-40787674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:40779654..40781499-chr20:40781607..40783482,2	MCF-7	breast:
2	chr20:40782305..40784731-chr20:40788079..40790643,2	MCF-7	breast:
3	chr20:40584778..40585687-chr20:40787476..40788453,2	MCF-7	breast:
4	chr20:40786474..40788670-chr7:2576513..2579220,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546995240	chr20:40783071-40783072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6030010	chr20:40783084-40783085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566819024	chr20:40783103-40783104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374882961	chr20:40783108-40783109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186271246	chr20:40783194-40783195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35324387	chr20:40783202-40783203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569473995	chr20:40783203-40783204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538483242	chr20:40783216-40783217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558142857	chr20:40783268-40783269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150972695	chr20:40783275-40783276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533519015	chr20:40783290-40783291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553737279	chr20:40783293-40783294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368085314	chr20:40783302-40783303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6030011	chr20:40783392-40783393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs375884283	chr20:40783398-40783399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6030012	chr20:40783412-40783413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139536482	chr20:40783416-40783417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145742347	chr20:40783458-40783459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374376987	chr20:40783471-40783472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565006918	chr20:40783478-40783479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527601075	chr20:40783487-40783488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190792873	chr20:40783502-40783503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560544342	chr20:40783513-40783514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375685357	chr20:40783525-40783526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114464537	chr20:40783527-40783528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568236362	chr20:40783546-40783547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562996354	chr20:40783566-40783567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536665245	chr20:40783579-40783580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6016701	chr20:40783598-40783599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6016702	chr20:40783619-40783620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554987206	chr20:40783657-40783658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377290200	chr20:40783662-40783663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531910944	chr20:40783669-40783670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576657594	chr20:40783677-40783678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112279975	chr20:40783689-40783690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182068287	chr20:40783709-40783710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10084509	chr20:40783722-40783723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376430278	chr20:40783730-40783731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187814486	chr20:40783740-40783741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561166413	chr20:40783842-40783843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535701781	chr20:40783846-40783847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566913120	chr20:40783875-40783876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559053964	chr20:40783877-40783878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56994977	chr20:40783878-40783879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555817964	chr20:40783910-40783911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529820141	chr20:40783915-40783916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575753608	chr20:40783942-40783943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538421986	chr20:40783974-40783975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370774665	chr20:40784021-40784022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572203236	chr20:40784022-40784023	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40773800-40783800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40783800-40785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:40784400-40784800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:40784800-40788000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:40785600-40785800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:40785800-40788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:40785800-40788600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:40786600-40787000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:40787200-40787400	Enhancers	Brain Hippocampus Middle	brain

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