Variant report

Variant	nsv933414
Chromosome Location	chr1:97770563-97772096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTBP2-2	chr1:97771745-97771865	ENSG00000232878.1

Extended variants
information (count: 73 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553432097	chr1:97770655-97770656	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527942345	chr1:97770659-97770660	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145463327	chr1:97770670-97770671	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541654954	chr1:97770686-97770687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112042653	chr1:97770694-97770695	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34534958	chr1:97770715-97770716	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs61261392	chr1:97770720-97770721	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369672458	chr1:97770808-97770809	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112766203	chr1:97770835-97770836	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs267598786	chr1:97770838-97770839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368327291	chr1:97770902-97770903	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570122671	chr1:97770904-97770905	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60511679	chr1:97770919-97770920	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1801160	chr1:97770920-97770921	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139543981	chr1:97770921-97770922	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146529561	chr1:97770928-97770929	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74104343	chr1:97770937-97770938	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377136032	chr1:97770945-97770946	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370800038	chr1:97770975-97770976	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373186866	chr1:97770976-97770977	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372206600	chr1:97770996-97770997	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193159634	chr1:97771022-97771023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372803707	chr1:97771027-97771028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536423381	chr1:97771056-97771057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12406482	chr1:97771097-97771098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554163649	chr1:97771143-97771144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74104344	chr1:97771145-97771146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74104345	chr1:97771173-97771174	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573947292	chr1:97771235-97771236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545026712	chr1:97771246-97771247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538307598	chr1:97771257-97771258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558548127	chr1:97771258-97771259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185018767	chr1:97771312-97771313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369052750	chr1:97771355-97771356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141110583	chr1:97771365-97771366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573329565	chr1:97771374-97771375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561606932	chr1:97771440-97771441	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190018477	chr1:97771470-97771471	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543989971	chr1:97771491-97771492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375234736	chr1:97771501-97771502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75179692	chr1:97771525-97771526	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536550709	chr1:97771526-97771527	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542236559	chr1:97771531-97771532	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532588410	chr1:97771559-97771560	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552161330	chr1:97771565-97771566	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3765175	chr1:97771602-97771603	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55694659	chr1:97771609-97771610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377021830	chr1:97771642-97771643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144820557	chr1:97771686-97771687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377330961	chr1:97771691-97771692	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97720600-97772000	Weak transcription	Ovary	ovary
2	chr1:97724000-97773200	Weak transcription	Lung	lung
3	chr1:97736800-97771600	Weak transcription	Left Ventricle	heart
4	chr1:97737800-97771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:97745000-97773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:97745200-97771800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:97745200-97773400	Weak transcription	NHDF-Ad	bronchial
8	chr1:97746000-97770600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:97753400-97773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:97754200-97773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:97756000-97772400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:97756800-97773200	Weak transcription	Small Intestine	intestine
13	chr1:97757800-97773200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:97757800-97773800	Weak transcription	Osteobl	bone
15	chr1:97758200-97771600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:97759200-97771600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:97759200-97772200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:97759600-97771400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:97759800-97776000	Weak transcription	Pancreas	Pancrea
20	chr1:97760000-97770600	Weak transcription	Aorta	Aorta
21	chr1:97760000-97772600	Weak transcription	Thymus	Thymus
22	chr1:97760200-97772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:97762800-97772200	Weak transcription	HSMMtube	muscle
24	chr1:97766400-97771600	Weak transcription	Fetal Brain Male	brain
25	chr1:97767200-97772000	Strong transcription	Liver	Liver
26	chr1:97768400-97771000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:97768400-97771000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:97768400-97772200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:97768600-97771000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:97769200-97781800	Weak transcription	NHLF	lung
31	chr1:97769400-97772000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:97769600-97771000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:97769600-97771800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:97769600-97772000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:97769600-97772200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:97769800-97771000	Strong transcription	Primary B cells from cord blood	blood
37	chr1:97769800-97771000	Strong transcription	Adipose Nuclei	Adipose
38	chr1:97769800-97771400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:97769800-97771800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:97769800-97772000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:97769800-97772000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:97769800-97772000	Strong transcription	Dnd41	blood
43	chr1:97770000-97770600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:97770000-97770800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:97770000-97771000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:97770000-97771000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:97770200-97771000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:97770400-97771600	Weak transcription	Brain Anterior Caudate	brain
49	chr1:97770400-97772000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:97770400-97772200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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