Variant report

Variant	nsv1011649
Chromosome Location	chr1:75368484-75395405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1413994	chr1:75373403-75373404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538579195	chr1:75373428-75373429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557174308	chr1:75373468-75373469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575360241	chr1:75373477-75373478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536441804	chr1:75373495-75373496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190321886	chr1:75373630-75373631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369830153	chr1:75373655-75373656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4559444	chr1:75373679-75373680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs573355546	chr1:75373680-75373681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549151436	chr1:75373709-75373710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540667722	chr1:75373754-75373755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565153802	chr1:75373763-75373764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577120546	chr1:75373812-75373813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201376745	chr1:75373813-75373814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374506513	chr1:75373914-75373915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144508896	chr1:75373935-75373936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75801428	chr1:75373937-75373938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372080074	chr1:75373986-75373987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557128407	chr1:75373988-75373989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560683509	chr1:75374016-75374017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17562236	chr1:75374025-75374026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546647293	chr1:75374115-75374116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35823133	chr1:75374130-75374131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182542101	chr1:75374147-75374148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538588559	chr1:75374250-75374251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550643353	chr1:75374322-75374323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185342095	chr1:75374340-75374341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10158253	chr1:75374375-75374376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554790814	chr1:75374421-75374422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558317041	chr1:75374466-75374467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573043490	chr1:75374477-75374478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114788423	chr1:75374480-75374481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10157473	chr1:75374482-75374483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148421143	chr1:75374489-75374490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544589112	chr1:75374503-75374504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576590697	chr1:75374518-75374519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375824393	chr1:75374519-75374520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544976506	chr1:75374528-75374529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563066639	chr1:75374533-75374534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574775016	chr1:75374556-75374557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542082278	chr1:75374615-75374616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10158427	chr1:75374648-75374649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527833641	chr1:75374659-75374660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142517613	chr1:75374703-75374704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189657228	chr1:75374741-75374742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147129014	chr1:75374749-75374750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72677775	chr1:75374767-75374768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368924073	chr1:75374799-75374800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201408988	chr1:75389439-75389440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548342412	chr1:75389450-75389451	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75373400-75374800	Enhancers	Liver	Liver
2	chr1:75389400-75390200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links