Variant report

Variant	esv3337289
Chromosome Location	chr2:133003057-133004186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:
2	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:

Extended variants
information (count: 250 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75203658	chr2:133003059-133003060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77386823	chr2:133003060-133003061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200749376	chr2:133003064-133003065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75774453	chr2:133003070-133003071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376006012	chr2:133003079-133003080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570639127	chr2:133003089-133003090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534777001	chr2:133003090-133003091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76580623	chr2:133003093-133003094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369051660	chr2:133003095-133003096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111834626	chr2:133003101-133003102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552990250	chr2:133003102-133003103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80276010	chr2:133003109-133003110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75744945	chr2:133003112-133003113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74436728	chr2:133003116-133003117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79963859	chr2:133003119-133003120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574736234	chr2:133003121-133003122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77901533	chr2:133003122-133003123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74802465	chr2:133003123-133003124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200571654	chr2:133003124-133003125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78242303	chr2:133003125-133003126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145979253	chr2:133003137-133003138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149257702	chr2:133003141-133003142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140535941	chr2:133003147-133003148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145202858	chr2:133003150-133003151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77919911	chr2:133003155-133003156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536548784	chr2:133003164-133003165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75810450	chr2:133003165-133003166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77630522	chr2:133003170-133003171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150736827	chr2:133003174-133003175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78830884	chr2:133003181-133003182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76509062	chr2:133003182-133003183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75179822	chr2:133003190-133003191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143461058	chr2:133003191-133003192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75967435	chr2:133003194-133003195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77359502	chr2:133003200-133003201	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76888669	chr2:133003210-133003211	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77481529	chr2:133003212-133003213	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140074671	chr2:133003216-133003217	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151110586	chr2:133003224-133003225	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79641625	chr2:133003225-133003226	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74992119	chr2:133003229-133003230	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141757837	chr2:133003230-133003231	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112570999	chr2:133003237-133003238	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62164018	chr2:133003240-133003241	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75851280	chr2:133003243-133003244	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75221757	chr2:133003246-133003247	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74332867	chr2:133003247-133003248	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62164019	chr2:133003248-133003249	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62164020	chr2:133003261-133003262	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374046028	chr2:133003263-133003264	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS 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:145 , 50 per page) page: 1 2 3

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	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
11	chr2:133000200-133003200	Weak transcription	Ovary	ovary
12	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
13	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
14	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
16	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
17	chr2:133000800-133003200	Weak transcription	NH-A	brain
18	chr2:133000800-133003200	Weak transcription	NHLF	lung
19	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
24	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
26	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel
29	chr2:133002800-133003200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:133002800-133003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr2:133002800-133003800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr2:133003000-133003600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr2:133003000-133003600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:133003000-133003600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:133003000-133003600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:133003000-133003600	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr2:133003000-133003600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:133003000-133003600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr2:133003000-133003600	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr2:133003000-133003600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:133003000-133003600	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr2:133003000-133003600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr2:133003000-133003600	ZNF genes & repeats	HMEC	breast
44	chr2:133003000-133003800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr2:133003000-133003800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:133003000-133003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:133003200-133003400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:133003200-133003400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:133003200-133003400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:133003200-133003600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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