Variant report

Variant	esv3384791
Chromosome Location	chr2:133001970-133002591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148935651	chr2:133001970-133001971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145137202	chr2:133001971-133001972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149255944	chr2:133001972-133001973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs148670909	chr2:133001973-133001974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566288892	chr2:133001974-133001975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146547669	chr2:133001976-133001977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143758914	chr2:133001980-133001981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79457044	chr2:133001983-133001984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147368430	chr2:133001984-133001985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113542353	chr2:133001993-133001994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62164006	chr2:133001994-133001995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62164007	chr2:133002001-133002002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62164008	chr2:133002005-133002006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199923865	chr2:133002007-133002008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77955565	chr2:133002028-133002029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62164009	chr2:133002038-133002039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536823086	chr2:133002049-133002050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111388862	chr2:133002064-133002065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78964802	chr2:133002069-133002070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62164010	chr2:133002075-133002076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62164011	chr2:133002077-133002078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs202181856	chr2:133002085-133002086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141240476	chr2:133002091-133002092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75631590	chr2:133002093-133002094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150470700	chr2:133002094-133002095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143450748	chr2:133002105-133002106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576511625	chr2:133002110-133002111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150786923	chr2:133002111-133002112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs143639719	chr2:133002114-133002115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs151109555	chr2:133002120-133002121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150102472	chr2:133002124-133002125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142605216	chr2:133002128-133002129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139264354	chr2:133002142-133002143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112824207	chr2:133002143-133002144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190403341	chr2:133002144-133002145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111663170	chr2:133002152-133002153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144873997	chr2:133002161-133002162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138167660	chr2:133002164-133002165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149289829	chr2:133002166-133002167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs199695705	chr2:133002168-133002169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs140666857	chr2:133002170-133002171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs367903021	chr2:133002180-133002181	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145531047	chr2:133002184-133002185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144903648	chr2:133002194-133002195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576824984	chr2:133002196-133002197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113127937	chr2:133002198-133002199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371979543	chr2:133002199-133002200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149590110	chr2:133002200-133002201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377135537	chr2:133002208-133002209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142944425	chr2:133002210-133002211	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:36 , 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	chr2:133000400-133002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:133000400-133002000	Weak transcription	Stomach Mucosa	stomach
17	chr2:133000600-133002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
20	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
21	chr2:133000800-133003200	Weak transcription	NH-A	brain
22	chr2:133000800-133003200	Weak transcription	NHLF	lung
23	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:133001600-133002200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:133002000-133002400	ZNF genes & repeats	HUVEC	blood vessel
26	chr2:133002200-133002400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:133002200-133002400	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
32	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
34	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel

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