Variant report

Variant	esv2758795
Chromosome Location	chr20:41252905-41277097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 999 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:999 , 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	rs17748052	chr20:41252905-41252906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377582771	chr20:41252925-41252926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529842889	chr20:41252944-41252945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151119200	chr20:41252960-41252961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs909862	chr20:41252999-41253000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs909863	chr20:41253081-41253082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs141079809	chr20:41253083-41253084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372440622	chr20:41253084-41253085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs909864	chr20:41253127-41253128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs80339474	chr20:41253129-41253130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76264875	chr20:41253133-41253134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189354510	chr20:41253175-41253176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181180360	chr20:41253204-41253205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6130178	chr20:41253215-41253216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536801862	chr20:41253224-41253225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556374683	chr20:41253232-41253233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150251213	chr20:41253248-41253249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145801490	chr20:41253249-41253250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565593602	chr20:41253250-41253251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140628574	chr20:41253271-41253272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569648481	chr20:41253272-41253273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560911686	chr20:41253283-41253284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138264874	chr20:41253297-41253298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549855007	chr20:41253316-41253317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563188150	chr20:41253350-41253351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532354851	chr20:41253379-41253380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78275479	chr20:41253418-41253419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540029422	chr20:41253424-41253425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185826233	chr20:41253438-41253439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534632223	chr20:41253444-41253445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6124478	chr20:41253474-41253475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571213264	chr20:41253486-41253487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6030370	chr20:41253498-41253499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs7262694	chr20:41253517-41253518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536213180	chr20:41253523-41253524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556621681	chr20:41253540-41253541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576431506	chr20:41253574-41253575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79689739	chr20:41253585-41253586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190494927	chr20:41253586-41253587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183098204	chr20:41253593-41253594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565327563	chr20:41253606-41253607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144943536	chr20:41253687-41253688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561523875	chr20:41253730-41253731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78259214	chr20:41253732-41253733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543020699	chr20:41253818-41253819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200292117	chr20:41253823-41253824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565798470	chr20:41253832-41253833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563410434	chr20:41253834-41253835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532145603	chr20:41253856-41253857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538902006	chr20:41253899-41253900	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41251400-41253800	Enhancers	NHEK	skin
2	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41257000-41258200	Enhancers	Liver	Liver
5	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
8	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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