Variant report

Variant	nsv546861
Chromosome Location	chr1:97676519-97686036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:357 , 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	rs3897933	chr1:97676519-97676520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576338785	chr1:97676545-97676546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36060421	chr1:97676548-97676549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567471605	chr1:97676570-97676571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377234401	chr1:97676577-97676578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192309575	chr1:97676589-97676590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12046043	chr1:97676609-97676610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141234315	chr1:97676671-97676672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7528631	chr1:97676684-97676685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145019886	chr1:97676696-97676697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573671176	chr1:97676742-97676743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542682730	chr1:97676776-97676777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187134245	chr1:97676811-97676812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531291873	chr1:97676812-97676813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191518451	chr1:97676828-97676829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565628231	chr1:97676864-97676865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182788362	chr1:97676866-97676867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547688568	chr1:97676887-97676888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544863570	chr1:97676907-97676908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10783056	chr1:97676941-97676942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs558958509	chr1:97676945-97676946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146780819	chr1:97677023-97677024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569803545	chr1:97677029-97677030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538692548	chr1:97677032-97677033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7540621	chr1:97677033-97677034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577552578	chr1:97677042-97677043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566103435	chr1:97677072-97677073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534061072	chr1:97677077-97677078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549576219	chr1:97677135-97677136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140746618	chr1:97677270-97677271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11408866	chr1:97677329-97677330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573735550	chr1:97677347-97677348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187260965	chr1:97677428-97677429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562643350	chr1:97677436-97677437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7551099	chr1:97677446-97677447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80202507	chr1:97677452-97677453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190116011	chr1:97677527-97677528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528772872	chr1:97677534-97677535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528012223	chr1:97677541-97677542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34328197	chr1:97677566-97677567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548023200	chr1:97677604-97677605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534868629	chr1:97677650-97677651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554912442	chr1:97677661-97677662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561024425	chr1:97677673-97677674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199875021	chr1:97677674-97677675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202187985	chr1:97677676-97677677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530355784	chr1:97677728-97677729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35847147	chr1:97677745-97677746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115054829	chr1:97677807-97677808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569841879	chr1:97677832-97677833	Weak 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:97659000-97697000	Weak transcription	Liver	Liver
3	chr1:97659400-97678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:97660600-97698600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97663600-97698600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:97666600-97697400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:97672000-97678600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:97676400-97678000	Weak transcription	HMEC	breast
10	chr1:97676800-97677000	Enhancers	Brain Substantia Nigra	brain
11	chr1:97678000-97678800	Enhancers	HMEC	breast
12	chr1:97678200-97678600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:97678200-97678800	Enhancers	NHEK	skin
14	chr1:97678200-97698600	Weak transcription	Left Ventricle	heart
15	chr1:97678400-97697400	Weak transcription	Dnd41	blood
16	chr1:97678600-97680400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:97680400-97685200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:97685200-97686200	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links