Variant report

Variant	nsv522445
Chromosome Location	chr20:41273663-41280315
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:

Extended variants
information (count: 268 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6030390	chr20:41273663-41273664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192780770	chr20:41273713-41273714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140943934	chr20:41273722-41273723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553160119	chr20:41273732-41273733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573054414	chr20:41273796-41273797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542140572	chr20:41273877-41273878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78170407	chr20:41273891-41273892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531221458	chr20:41273939-41273940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143262365	chr20:41273953-41273954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182412841	chr20:41273971-41273972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs969096	chr20:41273975-41273976	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs532928432	chr20:41273976-41273977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187087673	chr20:41274004-41274005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566692725	chr20:41274014-41274015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529062352	chr20:41274064-41274065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549182686	chr20:41274076-41274077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553615874	chr20:41274093-41274094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569083463	chr20:41274100-41274101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538138809	chr20:41274150-41274151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191878142	chr20:41274217-41274218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145485690	chr20:41274221-41274222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184357414	chr20:41274224-41274225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371232556	chr20:41274256-41274257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148824298	chr20:41274260-41274261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542365375	chr20:41274282-41274283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6030391	chr20:41274309-41274310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370657192	chr20:41274356-41274357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573117324	chr20:41274382-41274383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190393542	chr20:41274389-41274390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143423474	chr20:41274393-41274394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575897367	chr20:41274403-41274404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6093709	chr20:41274404-41274405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374497712	chr20:41274405-41274406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193091173	chr20:41274415-41274416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563938054	chr20:41274427-41274428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59454108	chr20:41274436-41274437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141897131	chr20:41274443-41274444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532911394	chr20:41274532-41274533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540344029	chr20:41274538-41274539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142607785	chr20:41274545-41274546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376351937	chr20:41274582-41274583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528974703	chr20:41274624-41274625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554758802	chr20:41274660-41274661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569023521	chr20:41274676-41274677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185832125	chr20:41274691-41274692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368225583	chr20:41274704-41274705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531516269	chr20:41274761-41274762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551606323	chr20:41274879-41274880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538570884	chr20:41274880-41274881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570780122	chr20:41274891-41274892	Weak transcription	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
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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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