Variant report

Variant	nsv827620
Chromosome Location	chr1:242122839-242124636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530208783	chr1:242122857-242122858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180691830	chr1:242122858-242122859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547031227	chr1:242122859-242122860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373642420	chr1:242122896-242122897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535621412	chr1:242122911-242122912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564121764	chr1:242122912-242122913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367778277	chr1:242122913-242122914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113838882	chr1:242122936-242122937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549714178	chr1:242122945-242122946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569493313	chr1:242122949-242122950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28395408	chr1:242122950-242122951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549174288	chr1:242122961-242122962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185125201	chr1:242122964-242122965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535118909	chr1:242123021-242123022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564226483	chr1:242123027-242123028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557825954	chr1:242123050-242123051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377421780	chr1:242123066-242123067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578100002	chr1:242123074-242123075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537736031	chr1:242123125-242123126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34041960	chr1:242123176-242123177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67563234	chr1:242123177-242123178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397864062	chr1:242123178-242123179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75477738	chr1:242123183-242123184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574401954	chr1:242123196-242123197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190077265	chr1:242123216-242123217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543216435	chr1:242123362-242123363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559900224	chr1:242123398-242123399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562637758	chr1:242123487-242123488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532917131	chr1:242123569-242123570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541164099	chr1:242123602-242123603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563925571	chr1:242123603-242123604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113971879	chr1:242123640-242123641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35696940	chr1:242123653-242123654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532794141	chr1:242123672-242123673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543295202	chr1:242123699-242123700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28394123	chr1:242123707-242123708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75768023	chr1:242123817-242123818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35680394	chr1:242123819-242123820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76716248	chr1:242123820-242123821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28698435	chr1:242123903-242123904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548855278	chr1:242123905-242123906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3862971	chr1:242123950-242123951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527884901	chr1:242123956-242123957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200954128	chr1:242123975-242123976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528567148	chr1:242124004-242124005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181357747	chr1:242124007-242124008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186894509	chr1:242124035-242124036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571645457	chr1:242124042-242124043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372107548	chr1:242124048-242124049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537409019	chr1:242124049-242124050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242121400-242161800	Weak transcription	Right Atrium	heart
2	chr1:242121800-242126800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links