Variant report

Variant	esv2830283
Chromosome Location	chr20:41266942-41290936
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	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:
2	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:

Extended variants
information (count: 966 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35349846	chr20:41266942-41266943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570353458	chr20:41266989-41266990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183272131	chr20:41267004-41267005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377238992	chr20:41267008-41267009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552755648	chr20:41267009-41267010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545656956	chr20:41267021-41267022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535608785	chr20:41267031-41267032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113624695	chr20:41267083-41267084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112823822	chr20:41267095-41267096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34532647	chr20:41267112-41267113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546731704	chr20:41267119-41267120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576612838	chr20:41267188-41267189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557432311	chr20:41267214-41267215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577121750	chr20:41267287-41267288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568112286	chr20:41267329-41267330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546281352	chr20:41267330-41267331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559561009	chr20:41267380-41267381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143142737	chr20:41267414-41267415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151189671	chr20:41267425-41267426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561926051	chr20:41267439-41267440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187989063	chr20:41267449-41267450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550855576	chr20:41267473-41267474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564119880	chr20:41267478-41267479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532747638	chr20:41267491-41267492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34701422	chr20:41267496-41267497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140228882	chr20:41267548-41267549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539062211	chr20:41267552-41267553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535517372	chr20:41267564-41267565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544127573	chr20:41267586-41267587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192529670	chr20:41267608-41267609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114751530	chr20:41267643-41267644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556178639	chr20:41267690-41267691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538147299	chr20:41267692-41267693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557719242	chr20:41267705-41267706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574411560	chr20:41267707-41267708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577188850	chr20:41267721-41267722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539417295	chr20:41267730-41267731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375887499	chr20:41267767-41267768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13041943	chr20:41267771-41267772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369291296	chr20:41267776-41267777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6072810	chr20:41267796-41267797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13042081	chr20:41267798-41267799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182611265	chr20:41267810-41267811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145344538	chr20:41267821-41267822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13042096	chr20:41267830-41267831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115309580	chr20:41267831-41267832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13036555	chr20:41267833-41267834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6072811	chr20:41267847-41267848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539617933	chr20:41267864-41267865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145062184	chr20:41267865-41267866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
3	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:41281000-41281400	Enhancers	Gastric	stomach
10	chr20:41281200-41281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:41281400-41285600	Weak transcription	Gastric	stomach
12	chr20:41284200-41285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:41285000-41285400	Enhancers	Fetal Heart	heart
14	chr20:41285600-41286200	Enhancers	Gastric	stomach

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