Variant report

Variant	esv3416259
Chromosome Location	chr2:133002158-133002485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144873997	chr2:133002161-133002162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138167660	chr2:133002164-133002165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149289829	chr2:133002166-133002167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199695705	chr2:133002168-133002169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140666857	chr2:133002170-133002171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs367903021	chr2:133002180-133002181	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145531047	chr2:133002184-133002185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144903648	chr2:133002194-133002195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576824984	chr2:133002196-133002197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113127937	chr2:133002198-133002199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371979543	chr2:133002199-133002200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149590110	chr2:133002200-133002201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377135537	chr2:133002208-133002209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142944425	chr2:133002210-133002211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369546795	chr2:133002213-133002214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372921576	chr2:133002214-133002215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149908654	chr2:133002215-133002216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115416537	chr2:133002220-133002221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375705681	chr2:133002228-133002229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369175382	chr2:133002235-133002236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376601697	chr2:133002237-133002238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374999173	chr2:133002238-133002239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369321453	chr2:133002248-133002249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115294401	chr2:133002251-133002252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372801202	chr2:133002258-133002259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143036804	chr2:133002276-133002277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138116454	chr2:133002280-133002281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527502940	chr2:133002281-133002282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112330532	chr2:133002286-133002287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542836100	chr2:133002294-133002295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7587083	chr2:133002295-133002296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113950104	chr2:133002296-133002297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187584653	chr2:133002304-133002305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145979263	chr2:133002311-133002312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193107559	chr2:133002313-133002314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376608283	chr2:133002315-133002316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376313899	chr2:133002318-133002319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370791636	chr2:133002320-133002321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149962062	chr2:133002322-133002323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373920538	chr2:133002324-133002325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141644031	chr2:133002330-133002331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201535870	chr2:133002336-133002337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571264316	chr2:133002342-133002343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150278102	chr2:133002343-133002344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149987794	chr2:133002350-133002351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147676563	chr2:133002351-133002352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142409284	chr2:133002364-133002365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532101829	chr2:133002367-133002368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182614204	chr2:133002368-133002369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551407338	chr2:133002369-133002370	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:132996600-133003400	Weak transcription	NHEK	skin
8	chr2:133000000-133003200	Weak transcription	Hela-S3	cervix
9	chr2:133000200-133002200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
12	chr2:133000200-133003200	Weak transcription	Ovary	ovary
13	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
14	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
15	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
17	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
18	chr2:133000800-133003200	Weak transcription	NH-A	brain
19	chr2:133000800-133003200	Weak transcription	NHLF	lung
20	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:133001600-133002200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:133002000-133002400	ZNF genes & repeats	HUVEC	blood vessel
23	chr2:133002200-133002400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:133002200-133002400	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
29	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
30	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
31	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel

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