Variant report

Variant	nsv1060248
Chromosome Location	chr20:41255601-41277097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 875 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17810239	chr20:41255601-41255602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578022683	chr20:41255612-41255613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6102959	chr20:41255613-41255614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559835482	chr20:41255620-41255621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201512469	chr20:41255643-41255644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144504368	chr20:41255646-41255647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374455025	chr20:41255647-41255648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78453143	chr20:41255648-41255649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17810257	chr20:41255654-41255655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548404639	chr20:41255699-41255700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562167833	chr20:41255723-41255724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551544900	chr20:41255727-41255728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148804394	chr20:41255732-41255733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570695664	chr20:41255733-41255734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17748201	chr20:41255735-41255736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111923606	chr20:41255736-41255737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182417323	chr20:41255739-41255740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35952939	chr20:41255777-41255778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6030379	chr20:41255778-41255779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76103310	chr20:41255780-41255781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6030380	chr20:41255805-41255806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537526274	chr20:41255807-41255808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558008620	chr20:41255808-41255809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577912610	chr20:41255846-41255847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187094802	chr20:41255848-41255849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191895301	chr20:41255868-41255869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138996936	chr20:41255900-41255901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72300304	chr20:41255901-41255902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573279647	chr20:41255910-41255911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535739932	chr20:41255917-41255918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140662332	chr20:41255988-41255989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73263821	chr20:41256021-41256022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35643809	chr20:41256092-41256093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542998566	chr20:41256096-41256097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144347658	chr20:41256123-41256124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564378711	chr20:41256133-41256134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75061609	chr20:41256148-41256149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141278923	chr20:41256151-41256152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150198345	chr20:41256158-41256159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138708247	chr20:41256159-41256160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548995828	chr20:41256176-41256177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568735613	chr20:41256183-41256184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537989168	chr20:41256203-41256204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557879750	chr20:41256207-41256208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190148377	chr20:41256258-41256259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6030381	chr20:41256291-41256292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs554132097	chr20:41256295-41256296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576400573	chr20:41256340-41256341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193250265	chr20:41256392-41256393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57329111	chr20:41256405-41256406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:8 , 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	chr20:41257000-41258200	Enhancers	Liver	Liver
3	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
6	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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