Variant report

Variant	esv3380502
Chromosome Location	chr2:132998223-133000038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 335 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62163970	chr2:132998226-132998227	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370770861	chr2:132998230-132998231	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62163971	chr2:132998232-132998233	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112740061	chr2:132998238-132998239	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74424820	chr2:132998239-132998240	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184979233	chr2:132998244-132998245	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111996902	chr2:132998246-132998247	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375239568	chr2:132998252-132998253	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78564453	chr2:132998271-132998272	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190234801	chr2:132998272-132998273	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62163972	chr2:132998278-132998279	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368506472	chr2:132998283-132998284	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77729394	chr2:132998291-132998292	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78595208	chr2:132998293-132998294	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79452513	chr2:132998298-132998299	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372305209	chr2:132998312-132998313	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375902234	chr2:132998320-132998321	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10201095	chr2:132998322-132998323	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568184974	chr2:132998327-132998328	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79789082	chr2:132998328-132998329	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535531918	chr2:132998335-132998336	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77294984	chr2:132998337-132998338	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557362127	chr2:132998346-132998347	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112208250	chr2:132998351-132998352	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs199590861	chr2:132998352-132998353	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76770226	chr2:132998353-132998354	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575543318	chr2:132998356-132998357	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200702317	chr2:132998381-132998382	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111363877	chr2:132998388-132998389	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372157542	chr2:132998389-132998390	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537401281	chr2:132998398-132998399	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558527071	chr2:132998411-132998412	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577121418	chr2:132998418-132998419	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113628216	chr2:132998444-132998445	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10201213	chr2:132998445-132998446	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10201215	chr2:132998447-132998448	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145735402	chr2:132998448-132998449	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146856460	chr2:132998449-132998450	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369606760	chr2:132998455-132998456	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574613773	chr2:132998456-132998457	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149251044	chr2:132998457-132998458	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200956658	chr2:132998460-132998461	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201791709	chr2:132998467-132998468	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139919519	chr2:132998468-132998469	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201285905	chr2:132998472-132998473	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145189397	chr2:132998473-132998474	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62163973	chr2:132998484-132998485	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541550523	chr2:132998485-132998486	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566544167	chr2:132998491-132998492	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199972852	chr2:132998495-132998496	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:100 , 50 per page) page: 1 2

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	chr2:132996200-132998400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr2:132996200-132998400	ZNF genes & repeats	NH-A	brain
8	chr2:132996200-132998600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:132996200-132998600	ZNF genes & repeats	Hela-S3	cervix
10	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
18	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr2:132996600-132999800	Weak transcription	A549	lung
21	chr2:132996600-132999800	Weak transcription	NHLF	lung
22	chr2:132996600-133003400	Weak transcription	NHEK	skin
23	chr2:132996800-132998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:132996800-132998400	Weak transcription	HUVEC	blood vessel
25	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:132997600-132998400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:132997600-132999800	Weak transcription	K562	blood
30	chr2:132997800-132998400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:132997800-132999800	Weak transcription	Ovary	ovary
32	chr2:132998200-132999000	Active TSS	Aorta	Aorta
33	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
34	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
37	chr2:132998400-132998600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
40	chr2:132998400-132998600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr2:132998400-132998600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr2:132998400-132998600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:132998400-132998600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
44	chr2:132998400-132998800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr2:132998400-132998800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr2:132998400-132999000	ZNF genes & repeats	HUVEC	blood vessel
47	chr2:132998400-132999800	Weak transcription	NH-A	brain
48	chr2:132998600-132999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:132998600-132999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:132998600-132999800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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