Variant report

Variant	esv2582194
Chromosome Location	chr13:38022734-38024240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563057249	chr13:38022734-38022735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189080359	chr13:38022767-38022768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548792540	chr13:38022787-38022788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546688073	chr13:38022788-38022789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576470208	chr13:38022789-38022790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559218528	chr13:38022791-38022792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528410190	chr13:38022795-38022796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551390234	chr13:38022804-38022805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571590013	chr13:38022809-38022810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537066757	chr13:38022810-38022811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75881841	chr13:38022889-38022890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200430941	chr13:38022890-38022891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146852906	chr13:38022901-38022902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551040145	chr13:38022922-38022923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148192296	chr13:38022957-38022958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2323492	chr13:38022966-38022967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567790487	chr13:38022984-38022985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568020867	chr13:38023005-38023006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17055650	chr13:38023012-38023013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs553646031	chr13:38023028-38023029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573488747	chr13:38023054-38023055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142085937	chr13:38023090-38023091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192346650	chr13:38023091-38023092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577529338	chr13:38023092-38023093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543084049	chr13:38023111-38023112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9576271	chr13:38023157-38023158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573447859	chr13:38023166-38023167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61947267	chr13:38023186-38023187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57846748	chr13:38023219-38023220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56001644	chr13:38023225-38023226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55749189	chr13:38023227-38023228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113523059	chr13:38023266-38023267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9635083	chr13:38023299-38023300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559272310	chr13:38023362-38023363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528297340	chr13:38023364-38023365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577536720	chr13:38023425-38023426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565068050	chr13:38023429-38023430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184485940	chr13:38023450-38023451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187361995	chr13:38023452-38023453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115480938	chr13:38023462-38023463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530179033	chr13:38023477-38023478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191791815	chr13:38023530-38023531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562993555	chr13:38023538-38023539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367872768	chr13:38023560-38023561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567040168	chr13:38023564-38023565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73176517	chr13:38023590-38023591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559186689	chr13:38023599-38023600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73464424	chr13:38023611-38023612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537045849	chr13:38023635-38023636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58722541	chr13:38023642-38023643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38020200-38022800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:38020200-38022800	Enhancers	HSMMtube	muscle
3	chr13:38020400-38022800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:38020400-38024200	Enhancers	Fetal Stomach	stomach
5	chr13:38021400-38022800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:38021400-38022800	Enhancers	Stomach Smooth Muscle	stomach
7	chr13:38021400-38025000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:38021400-38027200	Weak transcription	Osteobl	bone
9	chr13:38021600-38023200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:38021800-38022800	Enhancers	Colon Smooth Muscle	Colon
11	chr13:38022000-38022800	Enhancers	Rectal Smooth Muscle	rectum
12	chr13:38022400-38022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:38022400-38026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:38022600-38026200	Weak transcription	NHDF-Ad	bronchial
15	chr13:38022800-38023800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:38022800-38025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:38022800-38026000	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:38022800-38027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:38022800-38027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:38023200-38023600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:38023600-38024400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:38023800-38024000	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:38024200-38026400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links