Variant report

Variant	esv3415081
Chromosome Location	chr2:132980693-132980993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191241039	chr2:132980695-132980696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139954806	chr2:132980703-132980704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564413268	chr2:132980704-132980705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200626146	chr2:132980720-132980721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374037816	chr2:132980726-132980727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112101208	chr2:132980727-132980728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201638599	chr2:132980728-132980729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77220891	chr2:132980742-132980743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546541343	chr2:132980750-132980751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182742940	chr2:132980763-132980764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78457628	chr2:132980766-132980767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187372452	chr2:132980768-132980769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536104007	chr2:132980774-132980775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548001403	chr2:132980776-132980777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78190932	chr2:132980786-132980787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62165535	chr2:132980789-132980790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62165536	chr2:132980802-132980803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62165537	chr2:132980816-132980817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200844988	chr2:132980821-132980822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79000018	chr2:132980824-132980825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13422196	chr2:132980835-132980836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536846931	chr2:132980836-132980837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558667926	chr2:132980843-132980844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77717931	chr2:132980850-132980851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79535655	chr2:132980865-132980866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576817494	chr2:132980875-132980876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534612742	chr2:132980884-132980885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76296261	chr2:132980897-132980898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552970867	chr2:132980898-132980899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13397576	chr2:132980905-132980906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542568324	chr2:132980906-132980907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563812489	chr2:132980917-132980918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369169910	chr2:132980927-132980928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112169183	chr2:132980935-132980936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111550846	chr2:132980936-132980937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112335408	chr2:132980946-132980947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113135542	chr2:132980949-132980950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575834922	chr2:132980950-132980951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112386828	chr2:132980959-132980960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188904809	chr2:132980966-132980967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192637330	chr2:132980968-132980969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184443641	chr2:132980971-132980972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546076999	chr2:132980973-132980974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113844744	chr2:132980974-132980975	ZNF genes & repeats Weak transcription	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
3	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132980600-132980800	ZNF genes & repeats	Osteobl	bone
7	chr2:132980600-132981200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:132980600-132981200	ZNF genes & repeats	Fetal Heart	heart
9	chr2:132980600-132981200	ZNF genes & repeats	HUVEC	blood vessel
10	chr2:132980600-132981200	ZNF genes & repeats	K562	blood
11	chr2:132980600-132981600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr2:132980800-132981600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links