Variant report

Variant	esv3421281
Chromosome Location	chr13:38686001-38716773
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	chr13:38697528..38699053-chr13:38760202..38763046,2	MCF-7	breast:

Extended variants
information (count: 465 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547848366	chr13:38693214-38693215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9532171	chr13:38693258-38693259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578232578	chr13:38693273-38693274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545901447	chr13:38693371-38693372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562610111	chr13:38693375-38693376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575941531	chr13:38693410-38693411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7319078	chr13:38693417-38693418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147371023	chr13:38693457-38693458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114280371	chr13:38693534-38693535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547161206	chr13:38693544-38693545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191109382	chr13:38693600-38693601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565446840	chr13:38695212-38695213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530118293	chr13:38695221-38695222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532832179	chr13:38695281-38695282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534284237	chr13:38695349-38695350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11334801	chr13:38695366-38695367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143041501	chr13:38695380-38695381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375139043	chr13:38695395-38695396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369635298	chr13:38695431-38695432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113901552	chr13:38695498-38695499	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543683681	chr13:38695523-38695524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557012741	chr13:38695535-38695536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141132188	chr13:38695550-38695551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542464040	chr13:38695558-38695559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536930956	chr13:38695573-38695574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559760936	chr13:38695596-38695597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35767431	chr13:38695599-38695600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528614959	chr13:38695600-38695601	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545394402	chr13:38695632-38695633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1924192	chr13:38695683-38695684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs376489886	chr13:38695788-38695789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9532172	chr13:38695842-38695843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552661073	chr13:38695942-38695943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551247709	chr13:38695990-38695991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147380399	chr13:38696011-38696012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530273671	chr13:38696016-38696017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546892335	chr13:38696062-38696063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138807858	chr13:38696078-38696079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372813448	chr13:38696081-38696082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139507371	chr13:38696102-38696103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534389603	chr13:38696133-38696134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143259572	chr13:38696154-38696155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570898430	chr13:38696174-38696175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373644056	chr13:38696177-38696178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541471935	chr13:38696205-38696206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147507374	chr13:38696221-38696222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139429850	chr13:38696248-38696249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553228274	chr13:38696290-38696291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191990324	chr13:38696318-38696319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114500056	chr13:38696345-38696346	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38693200-38693600	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:38695200-38695600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:38695600-38697000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:38704200-38708200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:38709600-38710400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:38710400-38715600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:38715000-38716400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:38715400-38726200	Weak transcription	Pancreas	Pancrea
9	chr13:38715600-38716400	Enhancers	HUVEC	blood vessel
10	chr13:38715600-38716600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:38716600-38717200	Enhancers	Ovary	ovary
12	chr13:38716600-38718200	Weak transcription	Muscle Satellite Cultured Cells	--

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