Variant report

Variant	esv3495742
Chromosome Location	chr13:39519644-39520003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531731574	chr13:39519671-39519672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548646357	chr13:39519689-39519690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532773900	chr13:39519748-39519749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568492620	chr13:39519774-39519775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113428626	chr13:39519780-39519781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527790065	chr13:39519802-39519803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139865804	chr13:39519809-39519810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566571637	chr13:39519814-39519815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7318998	chr13:39519822-39519823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538473914	chr13:39519839-39519840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149441459	chr13:39519849-39519850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568860286	chr13:39519851-39519852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146392797	chr13:39519857-39519858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189908245	chr13:39519884-39519885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574441925	chr13:39519895-39519896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67819958	chr13:39519896-39519897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549156258	chr13:39519902-39519903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35901420	chr13:39519945-39519946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570240749	chr13:39519981-39519982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577353411	chr13:39519983-39519984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144211528	chr13:39519994-39519995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
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
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39514800-39524200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39520000-39520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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