Variant report

Variant	esv2760672
Chromosome Location	chr20:41253498-41279219
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: 1074 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6030370	chr20:41253498-41253499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7262694	chr20:41253517-41253518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536213180	chr20:41253523-41253524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556621681	chr20:41253540-41253541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576431506	chr20:41253574-41253575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79689739	chr20:41253585-41253586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190494927	chr20:41253586-41253587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183098204	chr20:41253593-41253594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565327563	chr20:41253606-41253607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144943536	chr20:41253687-41253688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561523875	chr20:41253730-41253731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78259214	chr20:41253732-41253733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543020699	chr20:41253818-41253819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200292117	chr20:41253823-41253824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565798470	chr20:41253832-41253833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563410434	chr20:41253834-41253835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532145603	chr20:41253856-41253857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538902006	chr20:41253899-41253900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6030371	chr20:41253902-41253903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551414559	chr20:41253953-41253954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559171069	chr20:41253977-41253978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148063978	chr20:41253983-41253984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548089557	chr20:41253984-41253985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568218317	chr20:41253989-41253990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575955507	chr20:41254015-41254016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530130188	chr20:41254055-41254056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374352780	chr20:41254068-41254069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531033134	chr20:41254077-41254078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376567454	chr20:41254087-41254088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186984661	chr20:41254102-41254103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114294672	chr20:41254119-41254120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559083008	chr20:41254132-41254133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578002063	chr20:41254140-41254141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566284887	chr20:41254148-41254149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535176673	chr20:41254166-41254167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6030372	chr20:41254183-41254184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs141771138	chr20:41254242-41254243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544080785	chr20:41254254-41254255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374104294	chr20:41254264-41254265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192264171	chr20:41254265-41254266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6093702	chr20:41254295-41254296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545535607	chr20:41254336-41254337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558984067	chr20:41254391-41254392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528275144	chr20:41254392-41254393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541596676	chr20:41254431-41254432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562031912	chr20:41254493-41254494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367694710	chr20:41254535-41254536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374999185	chr20:41254544-41254545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550848316	chr20:41254582-41254583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6016852	chr20:41254693-41254694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:13 , 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
11	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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