Variant report

Variant	nsv933115
Chromosome Location	chr1:97839250-97848477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 366 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115878359	chr1:97839284-97839285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558694597	chr1:97839288-97839289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114370525	chr1:97839350-97839351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192205047	chr1:97839354-97839355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6699630	chr1:97839413-97839414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs72728423	chr1:97839444-97839445	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546362897	chr1:97839499-97839500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376658676	chr1:97839573-97839574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548934138	chr1:97839581-97839582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568275527	chr1:97839622-97839623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114777697	chr1:97839640-97839641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185122179	chr1:97839646-97839647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570608085	chr1:97839651-97839652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7523609	chr1:97839665-97839666	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80186164	chr1:97839716-97839717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143432895	chr1:97839748-97839749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1337750	chr1:97839777-97839778	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148072322	chr1:97839796-97839797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7523775	chr1:97839826-97839827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7521352	chr1:97839855-97839856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555295573	chr1:97839873-97839874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188441480	chr1:97839877-97839878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1337751	chr1:97839897-97839898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192631667	chr1:97839924-97839925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12043234	chr1:97839925-97839926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4428924	chr1:97839944-97839945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140879071	chr1:97839998-97839999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376000273	chr1:97840014-97840015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7521537	chr1:97840043-97840044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7521541	chr1:97840052-97840053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113585985	chr1:97840061-97840062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556992108	chr1:97840072-97840073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376985738	chr1:97840077-97840078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540400597	chr1:97840095-97840096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7531819	chr1:97840104-97840105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140559361	chr1:97840108-97840109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576881772	chr1:97840121-97840122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184611025	chr1:97840141-97840142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529309585	chr1:97840147-97840148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35398836	chr1:97840167-97840168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542238045	chr1:97840206-97840207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562889600	chr1:97840207-97840208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559064695	chr1:97840219-97840220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572923776	chr1:97840223-97840224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530746370	chr1:97840229-97840230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199862791	chr1:97840251-97840252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550827751	chr1:97840252-97840253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570623153	chr1:97840268-97840269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151019433	chr1:97840270-97840271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570223870	chr1:97840273-97840274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Williams Syndrome	20824207	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
2	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:97803200-97843200	Weak transcription	Spleen	Spleen
4	chr1:97805800-97846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:97816000-97843200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97818000-97844200	Weak transcription	Osteobl	bone
7	chr1:97820200-97848200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:97823800-97845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:97824000-97846800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:97824200-97843200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:97824200-97843200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:97824200-97846800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:97824200-97848000	Weak transcription	Ovary	ovary
14	chr1:97824400-97855000	Weak transcription	Lung	lung
15	chr1:97827600-97847200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:97828000-97843200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:97828800-97849800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:97829200-97851000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:97829800-97845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:97830200-97839600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:97830400-97848400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:97830600-97845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:97830800-97843200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:97831000-97843000	Weak transcription	NH-A	brain
25	chr1:97831000-97874800	Weak transcription	HSMM	muscle
26	chr1:97832600-97843200	Weak transcription	NHDF-Ad	bronchial
27	chr1:97832800-97846200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:97832800-97847800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:97832800-97861200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:97833200-97840000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:97833400-97846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:97833800-97845200	Weak transcription	Dnd41	blood
33	chr1:97836200-97843000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:97837200-97877600	Weak transcription	Adipose Nuclei	Adipose
35	chr1:97838200-97839400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:97838600-97839400	Strong transcription	Liver	Liver
37	chr1:97839000-97843200	Weak transcription	Primary T cells from cord blood	blood
38	chr1:97839200-97839600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:97839200-97846000	Weak transcription	Fetal Stomach	stomach
40	chr1:97839400-97843200	Weak transcription	Liver	Liver
41	chr1:97839600-97839800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:97839600-97841200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:97839800-97841600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:97841200-97848400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:97841600-97842000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:97841800-97847600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:97841800-97850000	Weak transcription	HSMMtube	muscle
48	chr1:97842000-97842200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:97842000-97847400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:97842200-97843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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