Variant report

Variant	esv3447675
Chromosome Location	chr2:132980994-133000361
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: 2397 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2397 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62165539	chr2:132980999-132981000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201654939	chr2:132981001-132981002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6705886	chr2:132981003-132981004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62165541	chr2:132981005-132981006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564605528	chr2:132981009-132981010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181319629	chr2:132981010-132981011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200463177	chr2:132981013-132981014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62165542	chr2:132981016-132981017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369498713	chr2:132981018-132981019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113465278	chr2:132981028-132981029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374548188	chr2:132981030-132981031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62165543	chr2:132981032-132981033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528535740	chr2:132981034-132981035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62165544	chr2:132981037-132981038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111317960	chr2:132981046-132981047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62165545	chr2:132981061-132981062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6720892	chr2:132981071-132981072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62165548	chr2:132981083-132981084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546602696	chr2:132981087-132981088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6759608	chr2:132981101-132981102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6705244	chr2:132981109-132981110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6705245	chr2:132981110-132981111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201157279	chr2:132981136-132981137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112075887	chr2:132981176-132981177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529237868	chr2:132981177-132981178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548122121	chr2:132981185-132981186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201003105	chr2:132981186-132981187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201337156	chr2:132981208-132981209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75810657	chr2:132981234-132981235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111638075	chr2:132981247-132981248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537255800	chr2:132981258-132981259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111339627	chr2:132981279-132981280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201886173	chr2:132981304-132981305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199510112	chr2:132981306-132981307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112419594	chr2:132981307-132981308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149596222	chr2:132981315-132981316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200589419	chr2:132981316-132981317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6705486	chr2:132981328-132981329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6715681	chr2:132981333-132981334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552046564	chr2:132981343-132981344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141137501	chr2:132981348-132981349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140471968	chr2:132981349-132981350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199916217	chr2:132981364-132981365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141428984	chr2:132981375-132981376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201036743	chr2:132981384-132981385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570543805	chr2:132981397-132981398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200011115	chr2:132981401-132981402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553083228	chr2:132981409-132981410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6705590	chr2:132981410-132981411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568096901	chr2:132981411-132981412	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:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
3	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132980600-132981200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:132980600-132981200	ZNF genes & repeats	Fetal Heart	heart
8	chr2:132980600-132981200	ZNF genes & repeats	HUVEC	blood vessel
9	chr2:132980600-132981200	ZNF genes & repeats	K562	blood
10	chr2:132980600-132981600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr2:132980800-132981600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:132981200-132983000	Weak transcription	K562	blood
18	chr2:132982200-132983800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr2:132982200-132984000	ZNF genes & repeats	HUVEC	blood vessel
20	chr2:132982600-132983800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr2:132982800-132983800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:132982800-132984000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr2:132982800-132984000	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr2:132982800-132984000	ZNF genes & repeats	Liver	Liver
25	chr2:132983000-132983400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:132983400-132984000	ZNF genes & repeats	K562	blood
27	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:132983600-132983800	Active TSS	Hela-S3	cervix
29	chr2:132983600-132984000	ZNF genes & repeats	HSMMtube	muscle
30	chr2:132983600-132984000	ZNF genes & repeats	NH-A	brain
31	chr2:132983800-132984000	Flanking Active TSS	Hela-S3	cervix
32	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
33	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
34	chr2:132984000-132985000	Weak transcription	NH-A	brain
35	chr2:132984000-132994800	Weak transcription	K562	blood
36	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
37	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
43	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
45	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
46	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
47	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
48	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:132985400-132986600	Weak transcription	Dnd41	blood

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