Variant report

Variant	esv3337135
Chromosome Location	chr2:132995273-132995724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62166190	chr2:132995274-132995275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62166191	chr2:132995277-132995278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111376547	chr2:132995279-132995280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113707059	chr2:132995292-132995293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539220558	chr2:132995293-132995294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111864213	chr2:132995294-132995295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62166192	chr2:132995299-132995300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111837501	chr2:132995301-132995302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376130073	chr2:132995302-132995303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62166193	chr2:132995305-132995306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369596946	chr2:132995315-132995316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572825322	chr2:132995329-132995330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191473923	chr2:132995333-132995334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112736679	chr2:132995335-132995336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200601508	chr2:132995336-132995337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372259125	chr2:132995337-132995338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201354182	chr2:132995351-132995352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148066890	chr2:132995364-132995365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539920412	chr2:132995365-132995366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561382063	chr2:132995379-132995380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199602397	chr2:132995385-132995386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200426868	chr2:132995400-132995401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147485073	chr2:132995401-132995402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143880664	chr2:132995403-132995404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10188801	chr2:132995404-132995405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147397227	chr2:132995414-132995415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143945608	chr2:132995418-132995419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562993755	chr2:132995435-132995436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113316044	chr2:132995447-132995448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34824890	chr2:132995472-132995473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201233344	chr2:132995488-132995489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533589118	chr2:132995495-132995496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545243485	chr2:132995506-132995507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560714455	chr2:132995530-132995531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74823164	chr2:132995536-132995537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200510051	chr2:132995538-132995539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369829905	chr2:132995542-132995543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373850150	chr2:132995543-132995544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142552940	chr2:132995544-132995545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376288743	chr2:132995546-132995547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201462251	chr2:132995550-132995551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141401658	chr2:132995553-132995554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369127203	chr2:132995555-132995556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372876162	chr2:132995560-132995561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375852186	chr2:132995561-132995562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549488245	chr2:132995564-132995565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78962123	chr2:132995569-132995570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372022593	chr2:132995577-132995578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202160018	chr2:132995578-132995579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374200275	chr2:132995581-132995582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:132994800-132995400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:132994800-132995400	ZNF genes & repeats	HepG2	liver
5	chr2:132994800-132995400	ZNF genes & repeats	HMEC	breast
6	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr2:132995200-132996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:132995200-132996200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:132995200-132996200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:132995200-132996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:132995200-132996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:132995200-132996200	Weak transcription	Left Ventricle	heart
17	chr2:132995200-132996200	Weak transcription	Dnd41	blood
18	chr2:132995200-132996200	Weak transcription	GM12878-XiMat	blood
19	chr2:132995200-132996200	Weak transcription	Hela-S3	cervix
20	chr2:132995200-132996200	Weak transcription	HSMMtube	muscle
21	chr2:132995200-132996200	Weak transcription	HUVEC	blood vessel
22	chr2:132995200-132996200	Weak transcription	K562	blood
23	chr2:132995200-132996200	Weak transcription	NH-A	brain
24	chr2:132995200-132996200	Weak transcription	NHLF	lung
25	chr2:132995200-132996200	Weak transcription	Osteobl	bone
26	chr2:132995400-132996200	Weak transcription	HepG2	liver
27	chr2:132995400-132996200	Weak transcription	HMEC	breast

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