Variant report

Variant	esv3328231
Chromosome Location	chr2:132987650-132991975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 350 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs113851942	chr2:132987658-132987659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200636521	chr2:132987689-132987690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148979064	chr2:132987715-132987716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537597519	chr2:132987735-132987736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62166107	chr2:132987744-132987745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202061921	chr2:132987751-132987752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200347762	chr2:132987755-132987756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555850324	chr2:132987757-132987758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201517884	chr2:132987758-132987759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199503371	chr2:132987767-132987768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6712620	chr2:132987769-132987770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544628927	chr2:132987778-132987779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200653359	chr2:132987779-132987780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377121543	chr2:132987782-132987783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369557713	chr2:132987783-132987784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201055466	chr2:132987784-132987785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375853011	chr2:132987789-132987790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377729458	chr2:132987791-132987792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543344721	chr2:132987804-132987805	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113024516	chr2:132987816-132987817	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561417960	chr2:132987845-132987846	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369169227	chr2:132987849-132987850	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372411014	chr2:132987853-132987854	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113212773	chr2:132987859-132987860	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199677825	chr2:132987863-132987864	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532279113	chr2:132987864-132987865	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376014376	chr2:132987867-132987868	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369145130	chr2:132987889-132987890	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372772563	chr2:132987894-132987895	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111835664	chr2:132987903-132987904	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377401934	chr2:132987904-132987905	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6740607	chr2:132987911-132987912	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547889121	chr2:132987924-132987925	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112986627	chr2:132987935-132987936	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111620501	chr2:132987938-132987939	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367994686	chr2:132987949-132987950	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6730845	chr2:132987951-132987952	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73613005	chr2:132987955-132987956	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76160475	chr2:132987961-132987962	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192542408	chr2:132987962-132987963	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142480101	chr2:132987977-132987978	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183471724	chr2:132987978-132987979	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74213590	chr2:132987983-132987984	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6740638	chr2:132987996-132987997	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188151975	chr2:132987997-132987998	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549264123	chr2:132988009-132988010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62166108	chr2:132988010-132988011	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565549827	chr2:132988011-132988012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537666319	chr2:132988012-132988013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555915657	chr2:132988015-132988016	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132984000-132994800	Weak transcription	K562	blood
3	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132986800-132988000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:132986800-132988000	ZNF genes & repeats	Left Ventricle	heart
7	chr2:132986800-132988200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr2:132986800-132988200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr2:132986800-132988200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
10	chr2:132986800-132988200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr2:132986800-132988200	ZNF genes & repeats	Liver	Liver
12	chr2:132986800-132988200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr2:132986800-132988400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:132986800-132988400	ZNF genes & repeats	Fetal Brain Male	brain
15	chr2:132986800-132988400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr2:132986800-132989000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:132987000-132988200	ZNF genes & repeats	NH-A	brain
18	chr2:132987200-132987800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:132987200-132987800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:132987200-132995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:132987400-132987800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:132987400-132988200	ZNF genes & repeats	Dnd41	blood
23	chr2:132987600-132988000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
24	chr2:132987600-132988200	ZNF genes & repeats	HSMMtube	muscle
25	chr2:132987600-132988400	ZNF genes & repeats	HUVEC	blood vessel
26	chr2:132987800-132988000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:132987800-132988000	ZNF genes & repeats	Brain Angular Gyrus	brain
28	chr2:132987800-132988200	ZNF genes & repeats	Osteobl	bone
29	chr2:132987800-132994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:132988000-132988400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:132988200-132994800	Weak transcription	Dnd41	blood
33	chr2:132988200-132994800	Weak transcription	GM12878-XiMat	blood
34	chr2:132988200-132994800	Weak transcription	HSMMtube	muscle
35	chr2:132988200-132994800	Weak transcription	NH-A	brain
36	chr2:132988200-132994800	Weak transcription	Osteobl	bone
37	chr2:132988400-132994800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:132988400-132994800	Weak transcription	HUVEC	blood vessel
39	chr2:132989000-132989400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:132989000-132989400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:132989000-132994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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