Variant report

Variant	esv3355061
Chromosome Location	chr2:132983808-132988172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 566 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112269162	chr2:132983822-132983823	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111288525	chr2:132983827-132983828	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186799491	chr2:132983832-132983833	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547971902	chr2:132983838-132983839	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13402383	chr2:132983843-132983844	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149169414	chr2:132983844-132983845	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530191784	chr2:132983846-132983847	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112694206	chr2:132983851-132983852	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4259506	chr2:132983853-132983854	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548373958	chr2:132983855-132983856	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570066651	chr2:132983876-132983877	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200125056	chr2:132983883-132983884	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537041905	chr2:132983892-132983893	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs13414087	chr2:132983893-132983894	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34434972	chr2:132983898-132983899	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113928186	chr2:132983900-132983901	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375478969	chr2:132983902-132983903	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112001300	chr2:132983907-132983908	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113317972	chr2:132983908-132983909	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs13402486	chr2:132983912-132983913	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112759566	chr2:132983914-132983915	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113707911	chr2:132983919-132983920	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550097069	chr2:132983931-132983932	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113217477	chr2:132983936-132983937	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367885807	chr2:132983942-132983943	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113474018	chr2:132983944-132983945	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs202194314	chr2:132983946-132983947	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62166070	chr2:132983948-132983949	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375080885	chr2:132983954-132983955	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111839824	chr2:132983958-132983959	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138542419	chr2:132983961-132983962	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74806283	chr2:132983974-132983975	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112769897	chr2:132983975-132983976	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369980338	chr2:132983978-132983979	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538455416	chr2:132983981-132983982	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368273759	chr2:132983982-132983983	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372323542	chr2:132983983-132983984	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375386422	chr2:132983998-132983999	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367846392	chr2:132983999-132984000	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371658064	chr2:132984001-132984002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375290430	chr2:132984002-132984003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112330650	chr2:132984003-132984004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369352787	chr2:132984008-132984009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372806549	chr2:132984011-132984012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563582902	chr2:132984018-132984019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143948557	chr2:132984021-132984022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201677094	chr2:132984030-132984031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536374207	chr2:132984034-132984035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146651923	chr2:132984053-132984054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200251421	chr2:132984054-132984055	Weak transcription ZNF genes & repeats	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
6	chr2:132982200-132984000	ZNF genes & repeats	HUVEC	blood vessel
7	chr2:132982800-132984000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr2:132982800-132984000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr2:132982800-132984000	ZNF genes & repeats	Liver	Liver
10	chr2:132983400-132984000	ZNF genes & repeats	K562	blood
11	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:132983600-132984000	ZNF genes & repeats	HSMMtube	muscle
13	chr2:132983600-132984000	ZNF genes & repeats	NH-A	brain
14	chr2:132983800-132984000	Flanking Active TSS	Hela-S3	cervix
15	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
16	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
17	chr2:132984000-132985000	Weak transcription	NH-A	brain
18	chr2:132984000-132994800	Weak transcription	K562	blood
19	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
20	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
26	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
28	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
29	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
30	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
31	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
32	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:132985400-132986600	Weak transcription	Dnd41	blood
34	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:132985400-132986800	Weak transcription	Liver	Liver
40	chr2:132985400-132986800	Weak transcription	Fetal Brain Male	brain
41	chr2:132985400-132986800	Weak transcription	Psoas Muscle	Psoas
42	chr2:132985400-132987000	Weak transcription	NH-A	brain
43	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
44	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
45	chr2:132985600-132987400	Weak transcription	Osteobl	bone
46	chr2:132986200-132986600	Weak transcription	Aorta	Aorta
47	chr2:132986600-132986800	Enhancers	Aorta	Aorta
48	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr2:132986800-132987000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood

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