Variant report

Variant	esv3431058
Chromosome Location	chr2:133002897-133003350
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: 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	rs373051496	chr2:133002902-133002903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377300736	chr2:133002903-133002904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371194113	chr2:133002906-133002907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374426255	chr2:133002907-133002908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377470795	chr2:133002911-133002912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370113369	chr2:133002912-133002913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375291176	chr2:133002921-133002922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367946173	chr2:133002922-133002923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371266027	chr2:133002927-133002928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374360715	chr2:133002931-133002932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368399409	chr2:133002937-133002938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372433341	chr2:133002940-133002941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559378756	chr2:133002941-133002942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530465874	chr2:133002946-133002947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569408201	chr2:133002947-133002948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375418069	chr2:133002953-133002954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201394003	chr2:133002956-133002957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79222816	chr2:133002958-133002959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367713929	chr2:133002962-133002963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371194632	chr2:133002965-133002966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74606036	chr2:133002968-133002969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374985021	chr2:133002969-133002970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369211558	chr2:133002974-133002975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372045426	chr2:133002978-133002979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80319768	chr2:133002979-133002980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566733299	chr2:133002983-133002984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188789680	chr2:133002985-133002986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375669836	chr2:133002988-133002989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10197418	chr2:133002999-133003000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376323530	chr2:133003001-133003002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200361616	chr2:133003002-133003003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369766766	chr2:133003003-133003004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78116992	chr2:133003006-133003007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78993891	chr2:133003009-133003010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377708077	chr2:133003022-133003023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201023991	chr2:133003027-133003028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537209188	chr2:133003028-133003029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199650097	chr2:133003031-133003032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200606838	chr2:133003034-133003035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200191082	chr2:133003041-133003042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552273919	chr2:133003049-133003050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201295696	chr2:133003053-133003054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77923772	chr2:133003056-133003057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75203658	chr2:133003059-133003060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77386823	chr2:133003060-133003061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200749376	chr2:133003064-133003065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75774453	chr2:133003070-133003071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376006012	chr2:133003079-133003080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570639127	chr2:133003089-133003090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534777001	chr2:133003090-133003091	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:107 , 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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