Variant report

Variant	nsv869751
Chromosome Location	chr1:97749598-97790476
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	chr1:97788263-97788511	ENSG00000232878.1
2	lnc-PTBP2-2	chr1:97773946-97773980	ENSG00000232878.1
3	lnc-PTBP2-2	chr1:97771745-97771865	ENSG00000232878.1
4	lnc-LPPR5.1-6	chr1:97774870-97775074	uc_35_-
5	lnc-PTBP2-9	chr1:97774870-97775074	uc_35_+

Extended variants
information (count: 1722 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138142825	chr1:97749608-97749609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183806646	chr1:97749627-97749628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546864466	chr1:97749631-97749632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566500859	chr1:97749643-97749644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535547193	chr1:97749645-97749646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188912284	chr1:97749669-97749670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79652940	chr1:97749690-97749691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114678795	chr1:97749704-97749705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536698140	chr1:97749707-97749708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77486688	chr1:97749721-97749722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114146095	chr1:97749768-97749769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540519854	chr1:97749771-97749772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192944307	chr1:97749803-97749804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185087503	chr1:97749821-97749822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543132525	chr1:97749838-97749839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562871691	chr1:97749853-97749854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556414763	chr1:97749856-97749857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145414997	chr1:97749891-97749892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531818218	chr1:97749899-97749900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545460481	chr1:97749945-97749946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565277042	chr1:97749952-97749953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533269053	chr1:97749985-97749986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546876634	chr1:97750086-97750087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566674111	chr1:97750087-97750088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529050820	chr1:97750126-97750127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149643608	chr1:97750137-97750138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12049622	chr1:97750144-97750145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11165830	chr1:97750176-97750177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557375441	chr1:97750177-97750178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540376716	chr1:97750187-97750188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12726453	chr1:97750189-97750190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534228755	chr1:97750313-97750314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61786317	chr1:97750333-97750334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143367997	chr1:97750373-97750374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542889682	chr1:97750381-97750382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76606920	chr1:97750389-97750390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546054705	chr1:97750416-97750417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71656182	chr1:97750446-97750447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576509080	chr1:97750462-97750463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545472548	chr1:97750473-97750474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188575465	chr1:97750494-97750495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115139581	chr1:97750504-97750505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs6593640	chr1:97750526-97750527	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560215464	chr1:97750527-97750528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191630253	chr1:97750533-97750534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548945286	chr1:97750539-97750540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6593641	chr1:97750576-97750577	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12072735	chr1:97750586-97750587	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567965704	chr1:97750591-97750592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551018939	chr1:97750683-97750684	Weak transcription ZNF genes & repeats	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:226 , 50 per page) page: 1 2 3 4 5

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	chr1:97730400-97769800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:97731400-97761200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:97731600-97757600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:97731600-97757800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:97733600-97769800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:97736800-97771600	Weak transcription	Left Ventricle	heart
9	chr1:97737800-97750400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:97737800-97771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:97738800-97766200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:97743000-97750600	Weak transcription	Liver	Liver
13	chr1:97743000-97759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:97743800-97769800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:97744000-97750400	Weak transcription	HSMM	muscle
16	chr1:97744000-97758000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:97744200-97752200	Weak transcription	HSMMtube	muscle
18	chr1:97745000-97773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:97745200-97771800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:97745200-97773400	Weak transcription	NHDF-Ad	bronchial
21	chr1:97745800-97769800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:97746000-97770600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:97746200-97752800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:97746400-97750400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:97750400-97750600	ZNF genes & repeats	HSMM	muscle
26	chr1:97750400-97750800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr1:97750400-97751400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:97750600-97751000	ZNF genes & repeats	Liver	Liver
29	chr1:97750600-97770000	Weak transcription	HSMM	muscle
30	chr1:97750800-97757400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:97750800-97770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:97751000-97757600	Weak transcription	Liver	Liver
33	chr1:97751400-97757600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:97752800-97753400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr1:97753200-97753400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:97753200-97753400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:97753400-97757400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:97753400-97757600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:97753400-97773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:97754000-97762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:97754200-97773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:97756000-97772400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:97756800-97773200	Weak transcription	Small Intestine	intestine
44	chr1:97757000-97757400	Weak transcription	Dnd41	blood
45	chr1:97757200-97757600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:97757200-97757600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:97757400-97757600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:97757400-97757600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:97757400-97758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:97757400-97758400	ZNF genes & repeats	Dnd41	blood

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