Variant report

Variant	esv3372732
Chromosome Location	chr2:132995054-132996283
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	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:
2	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:

Extended variants
information (count: 198 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199520176	chr2:132995057-132995058	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145636308	chr2:132995058-132995059	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186561883	chr2:132995062-132995063	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77135121	chr2:132995063-132995064	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145051536	chr2:132995066-132995067	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111599313	chr2:132995077-132995078	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199680218	chr2:132995081-132995082	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79964498	chr2:132995093-132995094	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs68064917	chr2:132995105-132995106	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190718706	chr2:132995110-132995111	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75093610	chr2:132995112-132995113	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71283519	chr2:132995113-132995114	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77750632	chr2:132995119-132995120	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74816430	chr2:132995120-132995121	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79232747	chr2:132995121-132995122	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563136955	chr2:132995122-132995123	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79299847	chr2:132995125-132995126	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370590288	chr2:132995130-132995131	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145762793	chr2:132995132-132995133	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374676284	chr2:132995134-132995135	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146903626	chr2:132995137-132995138	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77737809	chr2:132995138-132995139	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376322809	chr2:132995140-132995141	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73600632	chr2:132995141-132995142	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370604420	chr2:132995144-132995145	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144456153	chr2:132995148-132995149	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73600633	chr2:132995151-132995152	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79293579	chr2:132995152-132995153	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143399363	chr2:132995156-132995157	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145219819	chr2:132995159-132995160	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374552425	chr2:132995164-132995165	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368528037	chr2:132995165-132995166	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551862990	chr2:132995168-132995169	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6760136	chr2:132995171-132995172	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112943547	chr2:132995172-132995173	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78522445	chr2:132995173-132995174	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142892486	chr2:132995176-132995177	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150481645	chr2:132995180-132995181	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113925837	chr2:132995182-132995183	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144623895	chr2:132995183-132995184	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147185880	chr2:132995184-132995185	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78354472	chr2:132995185-132995186	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79198553	chr2:132995187-132995188	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567650153	chr2:132995192-132995193	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111419823	chr2:132995194-132995195	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62166185	chr2:132995196-132995197	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74960284	chr2:132995200-132995201	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76620926	chr2:132995201-132995202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77908264	chr2:132995202-132995203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2691966	chr2:132995205-132995206	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:132994800-132995200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:132994800-132995200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:132994800-132995200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr2:132994800-132995200	ZNF genes & repeats	Left Ventricle	heart
7	chr2:132994800-132995200	ZNF genes & repeats	Dnd41	blood
8	chr2:132994800-132995200	ZNF genes & repeats	GM12878-XiMat	blood
9	chr2:132994800-132995200	Active TSS	Hela-S3	cervix
10	chr2:132994800-132995200	ZNF genes & repeats	HSMMtube	muscle
11	chr2:132994800-132995200	ZNF genes & repeats	HUVEC	blood vessel
12	chr2:132994800-132995200	ZNF genes & repeats	K562	blood
13	chr2:132994800-132995200	ZNF genes & repeats	NH-A	brain
14	chr2:132994800-132995200	ZNF genes & repeats	Osteobl	bone
15	chr2:132994800-132995400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:132994800-132995400	ZNF genes & repeats	HepG2	liver
17	chr2:132994800-132995400	ZNF genes & repeats	HMEC	breast
18	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:132995000-132995200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:132995000-132995200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr2:132995000-132995200	Enhancers	NHLF	lung
25	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr2:132995200-132996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:132995200-132996200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:132995200-132996200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:132995200-132996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:132995200-132996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:132995200-132996200	Weak transcription	Left Ventricle	heart
32	chr2:132995200-132996200	Weak transcription	Dnd41	blood
33	chr2:132995200-132996200	Weak transcription	GM12878-XiMat	blood
34	chr2:132995200-132996200	Weak transcription	Hela-S3	cervix
35	chr2:132995200-132996200	Weak transcription	HSMMtube	muscle
36	chr2:132995200-132996200	Weak transcription	HUVEC	blood vessel
37	chr2:132995200-132996200	Weak transcription	K562	blood
38	chr2:132995200-132996200	Weak transcription	NH-A	brain
39	chr2:132995200-132996200	Weak transcription	NHLF	lung
40	chr2:132995200-132996200	Weak transcription	Osteobl	bone
41	chr2:132995400-132996200	Weak transcription	HepG2	liver
42	chr2:132995400-132996200	Weak transcription	HMEC	breast
43	chr2:132996000-132996200	Enhancers	Thymus	Thymus
44	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr2:132996200-132996400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:132996200-132996400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:132996200-132996400	Active TSS	Right Atrium	heart
48	chr2:132996200-132996400	ZNF genes & repeats	Spleen	Spleen
49	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:132996200-132996600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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