Variant report

Variant	nsv511513
Chromosome Location	chr13:38048308-38050826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-5	chr13:38049742-38049847	NONHSAT033247
2	lnc-EXOSC8-5	chr13:38048795-38048839	l_812_chr13:38039862-38051088_testes
3	lnc-EXOSC8-5	chr13:38048777-38048839	NONHSAT033247

Extended variants
information (count: 114 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17055796	chr13:38048308-38048309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539731608	chr13:38048317-38048318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138624677	chr13:38048350-38048351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575311143	chr13:38048360-38048361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369253235	chr13:38048418-38048419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559489420	chr13:38048431-38048432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190152068	chr13:38048439-38048440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376957275	chr13:38048463-38048464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541654991	chr13:38048490-38048491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577002073	chr13:38048491-38048492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6563549	chr13:38048496-38048497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554136858	chr13:38048501-38048502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562488654	chr13:38048529-38048530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539531221	chr13:38048577-38048578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113027194	chr13:38048578-38048579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141624207	chr13:38048640-38048641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181414601	chr13:38048643-38048644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377416824	chr13:38048687-38048688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530442959	chr13:38048742-38048743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548136183	chr13:38048760-38048761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371076939	chr13:38048817-38048818	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs550182111	chr13:38048870-38048871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186615911	chr13:38048885-38048886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118000942	chr13:38048917-38048918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8002916	chr13:38048918-38048919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540074258	chr13:38048934-38048935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74809500	chr13:38048940-38048941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544483491	chr13:38048941-38048942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570323199	chr13:38048963-38048964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532361642	chr13:38048997-38048998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536172413	chr13:38049006-38049007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554577613	chr13:38049011-38049012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146125646	chr13:38049054-38049055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533635301	chr13:38049121-38049122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78196278	chr13:38049124-38049125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553872299	chr13:38049131-38049132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74634463	chr13:38049138-38049139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576960675	chr13:38049165-38049166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545545611	chr13:38049193-38049194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555948382	chr13:38049225-38049226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7986069	chr13:38049231-38049232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541740891	chr13:38049234-38049235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561722761	chr13:38049256-38049257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527728948	chr13:38049274-38049275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138920300	chr13:38049283-38049284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12866335	chr13:38049315-38049316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533330483	chr13:38049327-38049328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537942645	chr13:38049328-38049329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367974429	chr13:38049329-38049330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545505697	chr13:38049357-38049358	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38046000-38049200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:38048400-38049000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:38048600-38049800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:38048800-38049800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:38048800-38051200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:38049000-38049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:38049000-38049800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:38049000-38049800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:38049000-38049800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:38049200-38049400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:38049200-38049600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:38049200-38049600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:38049200-38051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:38049400-38049600	Enhancers	Colon Smooth Muscle	Colon
15	chr13:38049400-38049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:38049400-38051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:38049400-38051400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:38049400-38051400	Enhancers	NH-A	brain
19	chr13:38049400-38051600	Enhancers	Osteobl	bone
20	chr13:38049400-38051800	Enhancers	NHDF-Ad	bronchial
21	chr13:38049600-38049800	Enhancers	Fetal Lung	lung
22	chr13:38049600-38051600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:38049600-38054200	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:38049800-38050800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:38049800-38051600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:38049800-38053600	Weak transcription	Fetal Lung	lung
27	chr13:38049800-38054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:38050200-38051200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:38050200-38051400	Enhancers	HMEC	breast
30	chr13:38050200-38051800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:38050400-38051600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:38050800-38051400	Enhancers	NHEK	skin

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