Variant report

Variant	nsv546864
Chromosome Location	chr1:97744048-97764073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 830 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10875061	chr1:97744048-97744049	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553389042	chr1:97744174-97744175	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78707715	chr1:97744178-97744179	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564944818	chr1:97744197-97744198	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566879963	chr1:97744206-97744207	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536953960	chr1:97744207-97744208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556551294	chr1:97744242-97744243	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576591861	chr1:97744246-97744247	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537973491	chr1:97744283-97744284	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545306814	chr1:97744292-97744293	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568711231	chr1:97744392-97744393	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562488517	chr1:97744425-97744426	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559173610	chr1:97744442-97744443	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74368669	chr1:97744470-97744471	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71656178	chr1:97744471-97744472	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199727723	chr1:97744473-97744474	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551879382	chr1:97744477-97744478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35732009	chr1:97744478-97744479	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397714329	chr1:97744487-97744488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189899379	chr1:97744502-97744503	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530070710	chr1:97744589-97744590	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139836515	chr1:97744600-97744601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562609390	chr1:97744625-97744626	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181532460	chr1:97744629-97744630	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369480642	chr1:97744672-97744673	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530865672	chr1:97744691-97744692	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551331123	chr1:97744719-97744720	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184832255	chr1:97744757-97744758	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79606619	chr1:97744760-97744761	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527393137	chr1:97744833-97744834	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547040417	chr1:97744855-97744856	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566943854	chr1:97744859-97744860	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373630909	chr1:97744860-97744861	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77329905	chr1:97744901-97744902	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551075214	chr1:97744919-97744920	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141638990	chr1:97744928-97744929	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556108115	chr1:97744938-97744939	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570279783	chr1:97745008-97745009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539316591	chr1:97745012-97745013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111937508	chr1:97745049-97745050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200422503	chr1:97745050-97745051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527750521	chr1:97745053-97745054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533976552	chr1:97745079-97745080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202237041	chr1:97745080-97745081	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559235390	chr1:97745129-97745130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146204216	chr1:97745143-97745144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3921368	chr1:97745149-97745150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116121732	chr1:97745158-97745159	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2203982	chr1:97745181-97745182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555075115	chr1:97745190-97745191	Weak transcription Enhancers 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:141 , 50 per page) page: 1 2 3

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	chr1:97733400-97748800	Weak transcription	Dnd41	blood
8	chr1:97733600-97769800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:97736800-97747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:97736800-97771600	Weak transcription	Left Ventricle	heart
11	chr1:97737800-97750400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:97737800-97771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:97738800-97766200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:97740600-97745400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:97742600-97746400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:97742800-97744800	Enhancers	HMEC	breast
17	chr1:97742800-97745200	Enhancers	NHDF-Ad	bronchial
18	chr1:97743000-97744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:97743000-97744400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:97743000-97744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:97743000-97744600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:97743000-97745000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:97743000-97745000	Enhancers	NH-A	brain
24	chr1:97743000-97745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:97743000-97745200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:97743000-97745200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:97743000-97745200	Enhancers	Stomach Mucosa	stomach
28	chr1:97743000-97750600	Weak transcription	Liver	Liver
29	chr1:97743000-97759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:97743200-97744400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:97743200-97744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:97743200-97745200	Enhancers	NHLF	lung
33	chr1:97743400-97744800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:97743600-97744200	Enhancers	HSMMtube	muscle
35	chr1:97743600-97744200	Flanking Active TSS	HUVEC	blood vessel
36	chr1:97743600-97744400	Enhancers	A549	lung
37	chr1:97743600-97745000	Enhancers	Osteobl	bone
38	chr1:97743600-97746200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:97743800-97744200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:97743800-97744200	Flanking Active TSS	Hela-S3	cervix
41	chr1:97743800-97744200	Flanking Active TSS	NHEK	skin
42	chr1:97743800-97769800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:97744000-97745000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:97744000-97750400	Weak transcription	HSMM	muscle
45	chr1:97744000-97758000	Weak transcription	Primary T cells from cord blood	blood
46	chr1:97744200-97745000	Enhancers	HUVEC	blood vessel
47	chr1:97744200-97745000	Enhancers	NHEK	skin
48	chr1:97744200-97745200	Enhancers	Hela-S3	cervix
49	chr1:97744200-97745400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:97744200-97752200	Weak transcription	HSMMtube	muscle

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