Variant report

Variant	nsv458982
Chromosome Location	chr20:41269321-41302843
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: 1340 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6102967	chr20:41269321-41269322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531353340	chr20:41269334-41269335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62203848	chr20:41269337-41269338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367544013	chr20:41269353-41269354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564943321	chr20:41269369-41269370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373171955	chr20:41269404-41269405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527435466	chr20:41269440-41269441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371825695	chr20:41269467-41269468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547400793	chr20:41269515-41269516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569403496	chr20:41269516-41269517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375964989	chr20:41269525-41269526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529913679	chr20:41269569-41269570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549009713	chr20:41269651-41269652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368583652	chr20:41269656-41269657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144630574	chr20:41269712-41269713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116127844	chr20:41269713-41269714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188873763	chr20:41269741-41269742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150817097	chr20:41269846-41269847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554391302	chr20:41269847-41269848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574414150	chr20:41269850-41269851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139644353	chr20:41269872-41269873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146900927	chr20:41269874-41269875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575952770	chr20:41269919-41269920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544782269	chr20:41269921-41269922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192159035	chr20:41269937-41269938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572166420	chr20:41269947-41269948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145585649	chr20:41270043-41270044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117820110	chr20:41270044-41270045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80291006	chr20:41270056-41270057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148877896	chr20:41270072-41270073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562544756	chr20:41270098-41270099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531701610	chr20:41270107-41270108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551599881	chr20:41270116-41270117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571746256	chr20:41270146-41270147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534014882	chr20:41270178-41270179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534421138	chr20:41270224-41270225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548056870	chr20:41270238-41270239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6016856	chr20:41270241-41270242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144076392	chr20:41270269-41270270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146458585	chr20:41270286-41270287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575972475	chr20:41270310-41270311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184597159	chr20:41270327-41270328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369915359	chr20:41270391-41270392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78511991	chr20:41270394-41270395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35593630	chr20:41270441-41270442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561413916	chr20:41270465-41270466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11696309	chr20:41270466-41270467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73110497	chr20:41270467-41270468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556136609	chr20:41270526-41270527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6016857	chr20:41270555-41270556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 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
15	chr20:41295800-41296600	Enhancers	Gastric	stomach
16	chr20:41300800-41301000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:41301000-41301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:41301400-41301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:41301600-41305000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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