Variant report

Variant	esv3370313
Chromosome Location	chr2:133004129-133004531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139095290	chr2:133004139-133004140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202036670	chr2:133004141-133004142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62164044	chr2:133004152-133004153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113679909	chr2:133004157-133004158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199802752	chr2:133004171-133004172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370871116	chr2:133004173-133004174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62164045	chr2:133004176-133004177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111623649	chr2:133004186-133004187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76608017	chr2:133004192-133004193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78267862	chr2:133004202-133004203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113130197	chr2:133004203-133004204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546084434	chr2:133004204-133004205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139063854	chr2:133004205-133004206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200685721	chr2:133004213-133004214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149628258	chr2:133004220-133004221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145963189	chr2:133004227-133004228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139202778	chr2:133004232-133004233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144754204	chr2:133004236-133004237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79876564	chr2:133004248-133004249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142130113	chr2:133004251-133004252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148394579	chr2:133004274-133004275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115664304	chr2:133004277-133004278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116191282	chr2:133004287-133004288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140689847	chr2:133004288-133004289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150317060	chr2:133004294-133004295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144193382	chr2:133004299-133004300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151059214	chr2:133004300-133004301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528620063	chr2:133004302-133004303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146614378	chr2:133004305-133004306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143518302	chr2:133004316-133004317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142915342	chr2:133004323-133004324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148745145	chr2:133004325-133004326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113011696	chr2:133004331-133004332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114467251	chr2:133004334-133004335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375298283	chr2:133004339-133004340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368325558	chr2:133004341-133004342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114703532	chr2:133004344-133004345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376228311	chr2:133004347-133004348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372924717	chr2:133004349-133004350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374438388	chr2:133004358-133004359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113590595	chr2:133004362-133004363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113194205	chr2:133004375-133004376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369799192	chr2:133004383-133004384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111789810	chr2:133004385-133004386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367730227	chr2:133004386-133004387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371212181	chr2:133004387-133004388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575250232	chr2:133004391-133004392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374990178	chr2:133004396-133004397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569228108	chr2:133004402-133004403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369533417	chr2:133004403-133004404	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:50 , 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	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
9	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr2:133003200-133006200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:133003200-133011000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr2:133003600-133004400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:133003600-133004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:133003600-133004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:133003600-133004400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:133003600-133004400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:133003600-133004400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:133003600-133004400	Weak transcription	Colonic Mucosa	Colon
19	chr2:133003600-133004400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:133003600-133004400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:133003600-133004400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:133003600-133004400	Weak transcription	HUVEC	blood vessel
23	chr2:133003600-133004600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:133003600-133004600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:133003600-133004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133003600-133004600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:133003600-133004600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:133003600-133004600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:133003600-133004600	Weak transcription	Aorta	Aorta
30	chr2:133003600-133004600	Weak transcription	Fetal Heart	heart
31	chr2:133003600-133004600	Weak transcription	Left Ventricle	heart
32	chr2:133003600-133004600	Weak transcription	Ovary	ovary
33	chr2:133003600-133004600	Weak transcription	Psoas Muscle	Psoas
34	chr2:133003600-133004600	Weak transcription	Small Intestine	intestine
35	chr2:133003600-133004600	Weak transcription	Stomach Mucosa	stomach
36	chr2:133003600-133004600	Weak transcription	HSMMtube	muscle
37	chr2:133003600-133004600	Weak transcription	K562	blood
38	chr2:133003600-133004600	Weak transcription	NH-A	brain
39	chr2:133003800-133004600	Weak transcription	Fetal Brain Male	brain
40	chr2:133004400-133004800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:133004400-133004800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr2:133004400-133005000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr2:133004400-133005000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:133004400-133005000	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr2:133004400-133005000	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr2:133004400-133005000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr2:133004400-133005000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr2:133004400-133005000	ZNF genes & repeats	HUVEC	blood vessel
49	chr2:133004400-133006400	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr2:133004400-133012000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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