Variant report

Variant	esv1842234
Chromosome Location	chr13:39052556-39059834
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	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:
4	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:

Extended variants
information (count: 231 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4943589	chr13:39052556-39052557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574010178	chr13:39052602-39052603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536547317	chr13:39052621-39052622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553244782	chr13:39052701-39052702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371542557	chr13:39052712-39052713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545174109	chr13:39052727-39052728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534491840	chr13:39052734-39052735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575635322	chr13:39052775-39052776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112359205	chr13:39052779-39052780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560943788	chr13:39052788-39052789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191266690	chr13:39052802-39052803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546851864	chr13:39052834-39052835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552667614	chr13:39052948-39052949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560318314	chr13:39052981-39052982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532713495	chr13:39052983-39052984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551200557	chr13:39052986-39052987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567803123	chr13:39052995-39052996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535108592	chr13:39053090-39053091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9315583	chr13:39053150-39053151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536721857	chr13:39053151-39053152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142596380	chr13:39053174-39053175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115211071	chr13:39053219-39053220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183785767	chr13:39053294-39053295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553255231	chr13:39053346-39053347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9603387	chr13:39053359-39053360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538862999	chr13:39053360-39053361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146442246	chr13:39053379-39053380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369069827	chr13:39053433-39053434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200340579	chr13:39053434-39053435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528444078	chr13:39053451-39053452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372939514	chr13:39053452-39053453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561451910	chr13:39053463-39053464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576370181	chr13:39053482-39053483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575740201	chr13:39053525-39053526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534865878	chr13:39053541-39053542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139029659	chr13:39053548-39053549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188056572	chr13:39053551-39053552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113692261	chr13:39053592-39053593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143139023	chr13:39053601-39053602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192682159	chr13:39053611-39053612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144725113	chr13:39053619-39053620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530390517	chr13:39053673-39053674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562935715	chr13:39053687-39053688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530670039	chr13:39053702-39053703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550654732	chr13:39053710-39053711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567271978	chr13:39053792-39053793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185029147	chr13:39053796-39053797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546605213	chr13:39053849-39053850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566787962	chr13:39053853-39053854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189907850	chr13:39053854-39053855	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:2 , 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
2	chr13:39052400-39053000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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