Variant report

Variant	esv3351637
Chromosome Location	chr2:133003886-133004503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201407898	chr2:133003890-133003891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138924407	chr2:133003894-133003895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200052247	chr2:133003903-133003904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374862908	chr2:133003907-133003908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138397747	chr2:133003908-133003909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369580967	chr2:133003909-133003910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373550979	chr2:133003910-133003911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376692104	chr2:133003913-133003914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541131227	chr2:133003917-133003918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147442138	chr2:133003918-133003919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113452243	chr2:133003923-133003924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371600128	chr2:133003941-133003942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373405866	chr2:133003945-133003946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377474932	chr2:133003950-133003951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370132496	chr2:133003952-133003953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371841058	chr2:133003956-133003957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148656084	chr2:133003957-133003958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145144350	chr2:133003966-133003967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143097684	chr2:133003969-133003970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146931964	chr2:133003970-133003971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139585497	chr2:133003973-133003974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144247701	chr2:133003974-133003975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150035337	chr2:133003978-133003979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552753859	chr2:133003991-133003992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116355354	chr2:133003995-133003996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144893208	chr2:133004001-133004002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146234196	chr2:133004002-133004003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115739972	chr2:133004008-133004009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140041244	chr2:133004011-133004012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151094737	chr2:133004016-133004017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150088123	chr2:133004018-133004019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567651572	chr2:133004021-133004022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143588511	chr2:133004022-133004023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138865716	chr2:133004024-133004025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141698107	chr2:133004030-133004031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147917070	chr2:133004031-133004032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80273817	chr2:133004047-133004048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138639368	chr2:133004051-133004052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75025922	chr2:133004054-133004055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76007739	chr2:133004061-133004062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74376845	chr2:133004062-133004063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145503528	chr2:133004066-133004067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75199740	chr2:133004071-133004072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7582502	chr2:133004076-133004077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138210448	chr2:133004083-133004084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77867320	chr2:133004088-133004089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111810995	chr2:133004098-133004099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112335023	chr2:133004113-133004114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139095290	chr2:133004139-133004140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202036670	chr2:133004141-133004142	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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