Variant report

Variant	nsv1043910
Chromosome Location	chr13:38090828-38101268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186115313	chr13:38098437-38098438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148123962	chr13:38098469-38098470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9576291	chr13:38098490-38098491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141870354	chr13:38098525-38098526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115582717	chr13:38098543-38098544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547797198	chr13:38098575-38098576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532057173	chr13:38098610-38098611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536876333	chr13:38098663-38098664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7330705	chr13:38098719-38098720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7992731	chr13:38098720-38098721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191665005	chr13:38098722-38098723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10507455	chr13:38098734-38098735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554632131	chr13:38098777-38098778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574572011	chr13:38098780-38098781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540391825	chr13:38098786-38098787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7336580	chr13:38098808-38098809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183466078	chr13:38098830-38098831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546119403	chr13:38098852-38098853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188030526	chr13:38098905-38098906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562912693	chr13:38098935-38098936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191394379	chr13:38098993-38098994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138649561	chr13:38099013-38099014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141868429	chr13:38099030-38099031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146283574	chr13:38099045-38099046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182490201	chr13:38099057-38099058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367949139	chr13:38099075-38099076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7329947	chr13:38099091-38099092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186708990	chr13:38099167-38099168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571059909	chr13:38099178-38099179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566211285	chr13:38099251-38099252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533491885	chr13:38099333-38099334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192628621	chr13:38099414-38099415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536333516	chr13:38099434-38099435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553172938	chr13:38099543-38099544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554386108	chr13:38099596-38099597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139189470	chr13:38099629-38099630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60219327	chr13:38099684-38099685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78350441	chr13:38099685-38099686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577104116	chr13:38099698-38099699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373677204	chr13:38099711-38099712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539780547	chr13:38099740-38099741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78664963	chr13:38099856-38099857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143868768	chr13:38099884-38099885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9315498	chr13:38099921-38099922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184978505	chr13:38099962-38099963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17055959	chr13:38099964-38099965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541162887	chr13:38100011-38100012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564740910	chr13:38100013-38100014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533333160	chr13:38100014-38100015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552111841	chr13:38100033-38100034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38098400-38099000	Enhancers	NHDF-Ad	bronchial
2	chr13:38098600-38098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38098600-38099000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:38098600-38099000	Enhancers	NHEK	skin
5	chr13:38098800-38100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:38099000-38100200	Weak transcription	NHDF-Ad	bronchial
7	chr13:38100000-38100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:38100200-38101200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38100200-38102400	Enhancers	NHDF-Ad	bronchial
11	chr13:38100400-38102600	Enhancers	Osteobl	bone
12	chr13:38100600-38101400	Enhancers	NHLF	lung
13	chr13:38100600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:38100800-38102000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:38101200-38102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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