Variant report

Variant	esv3342703
Chromosome Location	chr2:132997398-132998529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62166213	chr2:132997398-132997399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370043887	chr2:132997399-132997400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552988526	chr2:132997400-132997401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113057244	chr2:132997404-132997405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144463633	chr2:132997413-132997414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574488451	chr2:132997418-132997419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143397705	chr2:132997421-132997422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200847359	chr2:132997424-132997425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111935453	chr2:132997427-132997428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62166214	chr2:132997430-132997431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62166215	chr2:132997437-132997438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201235056	chr2:132997442-132997443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112603363	chr2:132997444-132997445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542514420	chr2:132997455-132997456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62166216	chr2:132997461-132997462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200896873	chr2:132997465-132997466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62166217	chr2:132997468-132997469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111379311	chr2:132997470-132997471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143323197	chr2:132997475-132997476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189427529	chr2:132997479-132997480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202108269	chr2:132997484-132997485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560807058	chr2:132997485-132997486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200300973	chr2:132997487-132997488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112407937	chr2:132997496-132997497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372425515	chr2:132997498-132997499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200148723	chr2:132997511-132997512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62166218	chr2:132997512-132997513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111709354	chr2:132997523-132997524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551077249	chr2:132997524-132997525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543573503	chr2:132997527-132997528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62166219	chr2:132997529-132997530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369020801	chr2:132997531-132997532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564912410	chr2:132997536-132997537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372974865	chr2:132997537-132997538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532270523	chr2:132997544-132997545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547508200	chr2:132997554-132997555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376029600	chr2:132997557-132997558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113070334	chr2:132997558-132997559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150378293	chr2:132997560-132997561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367949800	chr2:132997563-132997564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113508395	chr2:132997565-132997566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141484621	chr2:132997567-132997568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369310273	chr2:132997570-132997571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565729059	chr2:132997572-132997573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372786882	chr2:132997588-132997589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371609353	chr2:132997591-132997592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376303611	chr2:132997600-132997601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62166220	chr2:132997601-132997602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62166221	chr2:132997611-132997612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185381037	chr2:132997615-132997616	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr2:132996200-132997600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:132996200-132997600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:132996200-132997600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
10	chr2:132996200-132997600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr2:132996200-132997600	ZNF genes & repeats	K562	blood
12	chr2:132996200-132997800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr2:132996200-132997800	ZNF genes & repeats	Left Ventricle	heart
14	chr2:132996200-132997800	ZNF genes & repeats	Ovary	ovary
15	chr2:132996200-132997800	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr2:132996200-132997800	ZNF genes & repeats	Dnd41	blood
17	chr2:132996200-132997800	ZNF genes & repeats	HSMMtube	muscle
18	chr2:132996200-132998400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr2:132996200-132998400	ZNF genes & repeats	NH-A	brain
20	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
22	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
30	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr2:132996600-132999800	Weak transcription	A549	lung
33	chr2:132996600-132999800	Weak transcription	NHLF	lung
34	chr2:132996600-133003400	Weak transcription	NHEK	skin
35	chr2:132996800-132998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:132996800-132998400	Weak transcription	HUVEC	blood vessel
37	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:132997200-132997600	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr2:132997200-132997600	ZNF genes & repeats	Right Ventricle	heart
41	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:132997600-132998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:132997600-132999800	Weak transcription	K562	blood
44	chr2:132997800-132998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:132997800-132999800	Weak transcription	Ovary	ovary
46	chr2:132998200-132999000	Active TSS	Aorta	Aorta
47	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
48	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain

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