Variant report

Variant	esv3381912
Chromosome Location	chr2:132997093-132999931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 500 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184103795	chr2:132997101-132997102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548855751	chr2:132997106-132997107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560793525	chr2:132997107-132997108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79639760	chr2:132997112-132997113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75188666	chr2:132997125-132997126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79009749	chr2:132997130-132997131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112334687	chr2:132997131-132997132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531485429	chr2:132997139-132997140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549618615	chr2:132997142-132997143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201716385	chr2:132997144-132997145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113767690	chr2:132997154-132997155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113984166	chr2:132997164-132997165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571284999	chr2:132997166-132997167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538274250	chr2:132997169-132997170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547447479	chr2:132997177-132997178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200064480	chr2:132997183-132997184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78319168	chr2:132997194-132997195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536987440	chr2:132997202-132997203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78804998	chr2:132997215-132997216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75085976	chr2:132997216-132997217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78445623	chr2:132997225-132997226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74649726	chr2:132997229-132997230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74407124	chr2:132997245-132997246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79057634	chr2:132997249-132997250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184584905	chr2:132997264-132997265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190215894	chr2:132997268-132997269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80015726	chr2:132997269-132997270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74941496	chr2:132997270-132997271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77744950	chr2:132997271-132997272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538947102	chr2:132997273-132997274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75862281	chr2:132997275-132997276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537612201	chr2:132997286-132997287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182402430	chr2:132997295-132997296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370914987	chr2:132997298-132997299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202120655	chr2:132997305-132997306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4644788	chr2:132997313-132997314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150979743	chr2:132997328-132997329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150393026	chr2:132997331-132997332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143165115	chr2:132997332-132997333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558798951	chr2:132997336-132997337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149954939	chr2:132997342-132997343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201414501	chr2:132997343-132997344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577295160	chr2:132997350-132997351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199603858	chr2:132997351-132997352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143669742	chr2:132997364-132997365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371618908	chr2:132997369-132997370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541110211	chr2:132997382-132997383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201542146	chr2:132997383-132997384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113054685	chr2:132997388-132997389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62166213	chr2:132997398-132997399	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:111 , 50 per page) page: 1 2 3

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	chr2:132996200-132997200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:132996200-132997600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:132996200-132997600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:132996200-132997600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr2:132996200-132997600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr2:132996200-132997600	ZNF genes & repeats	K562	blood
13	chr2:132996200-132997800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr2:132996200-132997800	ZNF genes & repeats	Left Ventricle	heart
15	chr2:132996200-132997800	ZNF genes & repeats	Ovary	ovary
16	chr2:132996200-132997800	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr2:132996200-132997800	ZNF genes & repeats	Dnd41	blood
18	chr2:132996200-132997800	ZNF genes & repeats	HSMMtube	muscle
19	chr2:132996200-132998400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr2:132996200-132998400	ZNF genes & repeats	NH-A	brain
21	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
23	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
31	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr2:132996600-132999800	Weak transcription	A549	lung
34	chr2:132996600-132999800	Weak transcription	NHLF	lung
35	chr2:132996600-133003400	Weak transcription	NHEK	skin
36	chr2:132996800-132998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:132996800-132998400	Weak transcription	HUVEC	blood vessel
38	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:132997200-132997600	ZNF genes & repeats	Brain Angular Gyrus	brain
41	chr2:132997200-132997600	ZNF genes & repeats	Right Ventricle	heart
42	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:132997600-132998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:132997600-132999800	Weak transcription	K562	blood
45	chr2:132997800-132998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:132997800-132999800	Weak transcription	Ovary	ovary
47	chr2:132998200-132999000	Active TSS	Aorta	Aorta
48	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
49	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose

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