Variant report

Variant	esv1805258
Chromosome Location	chr13:39054598-39060049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:
2	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:
3	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:
4	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4943590	chr13:39054598-39054599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564193464	chr13:39054625-39054626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370215526	chr13:39054650-39054651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150550083	chr13:39054678-39054679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373636326	chr13:39054690-39054691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569058296	chr13:39054706-39054707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537617461	chr13:39054733-39054734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111584912	chr13:39054790-39054791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528325087	chr13:39054795-39054796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568241614	chr13:39054806-39054807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181615819	chr13:39054834-39054835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375996747	chr13:39054848-39054849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554176255	chr13:39054857-39054858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546370085	chr13:39054862-39054863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577121906	chr13:39054870-39054871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370303559	chr13:39054891-39054892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556549597	chr13:39054909-39054910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114794129	chr13:39054914-39054915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73176770	chr13:39054941-39054942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562264626	chr13:39054967-39054968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184565139	chr13:39054996-39054997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4943591	chr13:39055128-39055129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560099832	chr13:39055174-39055175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531986443	chr13:39055201-39055202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189350089	chr13:39055218-39055219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180675601	chr13:39055280-39055281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374281144	chr13:39055312-39055313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548026133	chr13:39055342-39055343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77712498	chr13:39055363-39055364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557385396	chr13:39055370-39055371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75509800	chr13:39055372-39055373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146197005	chr13:39055374-39055375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539415159	chr13:39055520-39055521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556504969	chr13:39055529-39055530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559235860	chr13:39055531-39055532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114165914	chr13:39055543-39055544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536147550	chr13:39055544-39055545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556006532	chr13:39055625-39055626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572625713	chr13:39055643-39055644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200701833	chr13:39055648-39055649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73464371	chr13:39055651-39055652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559960182	chr13:39055656-39055657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115087042	chr13:39055658-39055659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545512252	chr13:39055674-39055675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149868672	chr13:39055713-39055714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144957728	chr13:39055715-39055716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538398121	chr13:39055742-39055743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548038403	chr13:39055778-39055779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185934459	chr13:39055813-39055814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527465507	chr13:39055814-39055815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39046200-39061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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