Variant report

Variant	esv3383124
Chromosome Location	chr13:38318752-38320800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58569073	chr13:38318766-38318767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56809893	chr13:38318773-38318774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138036978	chr13:38318774-38318775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142096504	chr13:38318787-38318788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59998383	chr13:38318795-38318796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532376273	chr13:38318876-38318877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185081569	chr13:38318940-38318941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577754295	chr13:38318984-38318985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528066333	chr13:38318985-38318986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79617989	chr13:38319028-38319029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551006782	chr13:38319041-38319042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555195841	chr13:38319051-38319052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188650904	chr13:38319066-38319067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545098781	chr13:38319108-38319109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534491077	chr13:38319138-38319139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552721203	chr13:38319152-38319153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572816796	chr13:38319172-38319173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544643588	chr13:38319188-38319189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73458353	chr13:38319262-38319263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368874415	chr13:38319264-38319265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574992176	chr13:38319328-38319329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544043250	chr13:38319335-38319336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74047144	chr13:38319342-38319343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529975009	chr13:38319356-38319357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540093827	chr13:38319362-38319363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73168468	chr13:38319412-38319413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573806582	chr13:38319427-38319428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78603832	chr13:38319428-38319429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4365182	chr13:38319480-38319481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531830637	chr13:38319498-38319499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4463964	chr13:38319575-38319576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12869016	chr13:38319577-38319578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377012493	chr13:38319585-38319586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369240906	chr13:38319586-38319587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371996064	chr13:38319587-38319588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375044454	chr13:38319591-38319592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202087698	chr13:38319597-38319598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59512594	chr13:38319598-38319599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368289106	chr13:38319601-38319602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376074836	chr13:38319611-38319612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4331228	chr13:38319612-38319613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200156265	chr13:38319614-38319615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76756348	chr13:38319636-38319637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529637387	chr13:38319645-38319646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548831743	chr13:38319648-38319649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9548040	chr13:38319651-38319652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12869304	chr13:38319656-38319657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181119876	chr13:38319665-38319666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538701520	chr13:38319673-38319674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201766400	chr13:38319676-38319677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Hodgkin''s lymphoma	18641027	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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38307600-38330800	Weak transcription	Ovary	ovary
2	chr13:38308200-38328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38309200-38320600	Weak transcription	NHLF	lung
4	chr13:38309600-38321000	Weak transcription	Osteobl	bone
5	chr13:38316000-38320200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:38316000-38321000	Weak transcription	NHDF-Ad	bronchial
7	chr13:38316000-38328200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:38316600-38320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:38318400-38319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:38318400-38319000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr13:38319000-38320200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:38319000-38323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:38319200-38320800	Weak transcription	NH-A	brain
14	chr13:38319800-38322200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:38320200-38320400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:38320200-38320400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:38320200-38322000	Enhancers	HSMM	muscle
18	chr13:38320400-38320600	Enhancers	Aorta	Aorta
19	chr13:38320400-38330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:38320600-38320800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr13:38320600-38321200	Weak transcription	Aorta	Aorta
22	chr13:38320600-38322200	Enhancers	HUVEC	blood vessel
23	chr13:38320600-38322200	Enhancers	NHLF	lung
24	chr13:38320800-38321600	Enhancers	NH-A	brain
25	chr13:38320800-38322400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:38320800-38322400	Enhancers	Hela-S3	cervix
27	chr13:38320800-38326400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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