Variant report

Variant	esv3402590
Chromosome Location	chr2:132996808-133004600
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: 1358 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369470886	chr2:132996808-132996809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555238705	chr2:132996812-132996813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148574265	chr2:132996813-132996814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112119180	chr2:132996815-132996816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62166211	chr2:132996818-132996819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62166212	chr2:132996834-132996835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193270017	chr2:132996843-132996844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543600850	chr2:132996853-132996854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370049724	chr2:132996875-132996876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202012234	chr2:132996888-132996889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112951407	chr2:132996891-132996892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76433533	chr2:132996914-132996915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77994295	chr2:132996922-132996923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565334243	chr2:132996931-132996932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74351436	chr2:132996933-132996934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75252373	chr2:132996937-132996938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76400691	chr2:132996949-132996950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79190897	chr2:132996951-132996952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577178130	chr2:132996985-132996986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541382402	chr2:132996990-132996991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568472054	chr2:132997002-132997003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74713456	chr2:132997020-132997021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182393678	chr2:132997052-132997053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187849468	chr2:132997055-132997056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192482005	chr2:132997063-132997064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112371277	chr2:132997078-132997079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559299785	chr2:132997080-132997081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527614556	chr2:132997087-132997088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112740895	chr2:132997089-132997090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184103795	chr2:132997101-132997102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548855751	chr2:132997106-132997107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560793525	chr2:132997107-132997108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79639760	chr2:132997112-132997113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75188666	chr2:132997125-132997126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79009749	chr2:132997130-132997131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112334687	chr2:132997131-132997132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531485429	chr2:132997139-132997140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549618615	chr2:132997142-132997143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201716385	chr2:132997144-132997145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113767690	chr2:132997154-132997155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113984166	chr2:132997164-132997165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571284999	chr2:132997166-132997167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538274250	chr2:132997169-132997170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547447479	chr2:132997177-132997178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200064480	chr2:132997183-132997184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78319168	chr2:132997194-132997195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536987440	chr2:132997202-132997203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78804998	chr2:132997215-132997216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75085976	chr2:132997216-132997217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78445623	chr2:132997225-132997226	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:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr2:132996200-132997000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr2:132996200-132997000	ZNF genes & repeats	Brain Angular Gyrus	brain
9	chr2:132996200-132997000	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:132996200-132997200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:132996200-132997600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:132996200-132997600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:132996200-132997600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
14	chr2:132996200-132997600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr2:132996200-132997600	ZNF genes & repeats	K562	blood
16	chr2:132996200-132997800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr2:132996200-132997800	ZNF genes & repeats	Left Ventricle	heart
18	chr2:132996200-132997800	ZNF genes & repeats	Ovary	ovary
19	chr2:132996200-132997800	ZNF genes & repeats	Psoas Muscle	Psoas
20	chr2:132996200-132997800	ZNF genes & repeats	Dnd41	blood
21	chr2:132996200-132997800	ZNF genes & repeats	HSMMtube	muscle
22	chr2:132996200-132998400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr2:132996200-132998400	ZNF genes & repeats	NH-A	brain
24	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
26	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
34	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr2:132996400-132997000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr2:132996400-132997000	ZNF genes & repeats	Right Ventricle	heart
38	chr2:132996600-132999800	Weak transcription	A549	lung
39	chr2:132996600-132999800	Weak transcription	NHLF	lung
40	chr2:132996600-133003400	Weak transcription	NHEK	skin
41	chr2:132996800-132998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:132996800-132998400	Weak transcription	HUVEC	blood vessel
43	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:132997200-132997600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr2:132997200-132997600	ZNF genes & repeats	Right Ventricle	heart
47	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:132997600-132998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:132997600-132999800	Weak transcription	K562	blood
50	chr2:132997800-132998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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