Variant report

Variant	nsv960983
Chromosome Location	chr2:126408503-126409796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140672666	chr2:126408544-126408545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367605901	chr2:126408550-126408551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79151352	chr2:126408573-126408574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553659113	chr2:126408610-126408611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2162486	chr2:126408611-126408612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546000011	chr2:126408706-126408707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562418443	chr2:126408737-126408738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531467408	chr2:126408787-126408788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2114603	chr2:126408792-126408793	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6714818	chr2:126408816-126408817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527287751	chr2:126408830-126408831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548071135	chr2:126408866-126408867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555696388	chr2:126408991-126408992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144634490	chr2:126408993-126408994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533338854	chr2:126409006-126409007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116483636	chr2:126409012-126409013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570037087	chr2:126409026-126409027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535985822	chr2:126409033-126409034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115777958	chr2:126409047-126409048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565744856	chr2:126409071-126409072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371937678	chr2:126409072-126409073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565694887	chr2:126409109-126409110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534891331	chr2:126409110-126409111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563187517	chr2:126409178-126409179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534711449	chr2:126409181-126409182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114083377	chr2:126409199-126409200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577095475	chr2:126409232-126409233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74928990	chr2:126409272-126409273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115883954	chr2:126409274-126409275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72854007	chr2:126409278-126409279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551365833	chr2:126409384-126409385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73953957	chr2:126409394-126409395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191027130	chr2:126409491-126409492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572038911	chr2:126409495-126409496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373328130	chr2:126409555-126409556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147896321	chr2:126409570-126409571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564606733	chr2:126409683-126409684	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533714614	chr2:126409684-126409685	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550098292	chr2:126409690-126409691	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563954936	chr2:126409698-126409699	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73953958	chr2:126409700-126409701	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375492636	chr2:126409735-126409736	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565856940	chr2:126409767-126409768	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126407000-126409800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:126408600-126410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:126409400-126410200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:126409600-126410000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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