Variant report

Variant	esv3393433
Chromosome Location	chr2:132967211-132968515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112502482	chr2:132967232-132967233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7594658	chr2:132967263-132967264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111650762	chr2:132967267-132967268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199666231	chr2:132967273-132967274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558452061	chr2:132967282-132967283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576720216	chr2:132967306-132967307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200727546	chr2:132967319-132967320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555524368	chr2:132967359-132967360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144457209	chr2:132967361-132967362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139949473	chr2:132967367-132967368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71260749	chr2:132967373-132967374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111516036	chr2:132967376-132967377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145936610	chr2:132967379-132967380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111951026	chr2:132967414-132967415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs370518070	chr2:132967439-132967440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201742208	chr2:132967444-132967445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559078615	chr2:132967451-132967452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574196653	chr2:132967461-132967462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75765158	chr2:132967469-132967470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74474582	chr2:132967471-132967472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75020191	chr2:132967472-132967473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111425102	chr2:132967473-132967474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541534252	chr2:132967476-132967477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs77947385	chr2:132967477-132967478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74676862	chr2:132967478-132967479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76423228	chr2:132967481-132967482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74746104	chr2:132967484-132967485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74519711	chr2:132967485-132967486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75732184	chr2:132967487-132967488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79296970	chr2:132967488-132967489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79778942	chr2:132967489-132967490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78831714	chr2:132967496-132967497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62276601	chr2:132967502-132967503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79193345	chr2:132967503-132967504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80021809	chr2:132967504-132967505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62164417	chr2:132967507-132967508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77026406	chr2:132967509-132967510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75196840	chr2:132967513-132967514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76156242	chr2:132967514-132967515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78470397	chr2:132967516-132967517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76136982	chr2:132967518-132967519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs74904133	chr2:132967519-132967520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530460764	chr2:132967521-132967522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75794074	chr2:132967523-132967524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200009256	chr2:132967525-132967526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76528194	chr2:132967528-132967529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78514775	chr2:132967530-132967531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78177943	chr2:132967533-132967534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552131424	chr2:132967534-132967535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79878372	chr2:132967535-132967536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132959800-132967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:132967400-132968000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:132968400-132968600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links