Variant report

Variant	esv3418237
Chromosome Location	chr2:133000544-133004530
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	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:
2	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:

Extended variants
information (count: 742 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111262801	chr2:133000544-133000545	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62163998	chr2:133000553-133000554	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112182814	chr2:133000562-133000563	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62163999	chr2:133000563-133000564	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79620612	chr2:133000564-133000565	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62164000	chr2:133000568-133000569	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62164001	chr2:133000570-133000571	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370043315	chr2:133000571-133000572	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62164002	chr2:133000575-133000576	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113872994	chr2:133000576-133000577	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78184493	chr2:133000591-133000592	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs566204397	chr2:133000595-133000596	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140468889	chr2:133000600-133000601	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111691153	chr2:133000616-133000617	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533620977	chr2:133000626-133000627	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188152913	chr2:133000630-133000631	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369076817	chr2:133000633-133000634	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528352073	chr2:133000644-133000645	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200514804	chr2:133000646-133000647	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540547853	chr2:133000647-133000648	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114797751	chr2:133000712-133000713	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149939847	chr2:133000718-133000719	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573574254	chr2:133000725-133000726	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538159428	chr2:133000740-133000741	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115160886	chr2:133000762-133000763	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150997086	chr2:133000773-133000774	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10205712	chr2:133000783-133000784	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112327650	chr2:133000804-133000805	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35365719	chr2:133000819-133000820	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373352238	chr2:133000833-133000834	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375845088	chr2:133000836-133000837	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368589878	chr2:133000842-133000843	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370801178	chr2:133000844-133000845	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374213030	chr2:133000849-133000850	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572603286	chr2:133000853-133000854	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191258337	chr2:133000856-133000857	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113038145	chr2:133000908-133000909	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182536297	chr2:133000918-133000919	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76484105	chr2:133000937-133000938	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10928318	chr2:133000994-133000995	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77340970	chr2:133001027-133001028	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200817224	chr2:133001036-133001037	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371308346	chr2:133001062-133001063	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531687229	chr2:133001066-133001067	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111351622	chr2:133001079-133001080	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113567513	chr2:133001080-133001081	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112903846	chr2:133001081-133001082	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111693134	chr2:133001103-133001104	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112486430	chr2:133001128-133001129	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146745041	chr2:133001145-133001146	ZNF genes & repeats Weak transcription Active TSS	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:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
8	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr2:132996600-133003400	Weak transcription	NHEK	skin
11	chr2:132999800-133000600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
12	chr2:132999800-133000600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr2:132999800-133000800	ZNF genes & repeats	HepG2	liver
14	chr2:132999800-133000800	ZNF genes & repeats	HSMMtube	muscle
15	chr2:132999800-133000800	ZNF genes & repeats	HUVEC	blood vessel
16	chr2:132999800-133000800	ZNF genes & repeats	NH-A	brain
17	chr2:132999800-133000800	ZNF genes & repeats	NHLF	lung
18	chr2:132999800-133001200	Active TSS	Aorta	Aorta
19	chr2:132999800-133001400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:133000000-133003200	Weak transcription	Hela-S3	cervix
21	chr2:133000200-133000800	Weak transcription	K562	blood
22	chr2:133000200-133001600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:133000200-133002200	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
26	chr2:133000200-133003200	Weak transcription	Ovary	ovary
27	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
28	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
29	chr2:133000400-133000600	Weak transcription	Right Atrium	heart
30	chr2:133000400-133000800	ZNF genes & repeats	Dnd41	blood
31	chr2:133000400-133000800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr2:133000400-133002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:133000400-133002000	Weak transcription	Stomach Mucosa	stomach
34	chr2:133000600-133002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
37	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
38	chr2:133000800-133003200	Weak transcription	NH-A	brain
39	chr2:133000800-133003200	Weak transcription	NHLF	lung
40	chr2:133001200-133001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:133001600-133002200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:133002000-133002400	ZNF genes & repeats	HUVEC	blood vessel
44	chr2:133002200-133002400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:133002200-133002400	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
50	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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