Variant report

Variant	nsv963880
Chromosome Location	chr2:125844560-125848798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544508840	chr2:125844568-125844569	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554766722	chr2:125844577-125844578	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574660338	chr2:125844584-125844585	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540532054	chr2:125844600-125844601	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112868965	chr2:125844625-125844626	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372856761	chr2:125844667-125844668	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138022570	chr2:125844682-125844683	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150183068	chr2:125844693-125844694	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574651873	chr2:125844727-125844728	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540243523	chr2:125844741-125844742	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532446945	chr2:125844760-125844761	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546167412	chr2:125844766-125844767	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149521989	chr2:125844767-125844768	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531809175	chr2:125844787-125844788	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548673147	chr2:125844822-125844823	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13024027	chr2:125844849-125844850	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4276033	chr2:125844856-125844857	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546962769	chr2:125844916-125844917	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545864528	chr2:125844959-125844960	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34661661	chr2:125844963-125844964	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566751951	chr2:125844971-125844972	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538290597	chr2:125844990-125844991	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75939316	chr2:125844991-125844992	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568733746	chr2:125845010-125845011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138762833	chr2:125845018-125845019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562563159	chr2:125845034-125845035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574693045	chr2:125845035-125845036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540421275	chr2:125845066-125845067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554083720	chr2:125845068-125845069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577448023	chr2:125845095-125845096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200790960	chr2:125845107-125845108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377559673	chr2:125845172-125845173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370676869	chr2:125845234-125845235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375351185	chr2:125845261-125845262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562922005	chr2:125845291-125845292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114098308	chr2:125845343-125845344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542346369	chr2:125845375-125845376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562160771	chr2:125845378-125845379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529956757	chr2:125845394-125845395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546802977	chr2:125845424-125845425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529827736	chr2:125845436-125845437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74857725	chr2:125845446-125845447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs207462326	chr2:125845456-125845457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368645565	chr2:125845467-125845468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34495630	chr2:125845538-125845539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141479712	chr2:125845573-125845574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537399674	chr2:125845587-125845588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561345868	chr2:125845595-125845596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116448622	chr2:125845630-125845631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534155623	chr2:125845654-125845655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125843600-125844600	Enhancers	Fetal Intestine Large	intestine
2	chr2:125843800-125845000	Flanking Active TSS	Liver	Liver
3	chr2:125844000-125844600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr2:125844200-125844800	Flanking Active TSS	HepG2	liver
5	chr2:125844400-125844800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:125844800-125845400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:125844800-125845400	Enhancers	HepG2	liver
8	chr2:125845000-125845600	Enhancers	Liver	Liver
9	chr2:125845600-125846600	Weak transcription	Liver	Liver
10	chr2:125846600-125846800	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links