Variant report

Variant	esv3329042
Chromosome Location	chr2:132982372-132985589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 453 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10181928	chr2:132982376-132982377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138211137	chr2:132982379-132982380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556605293	chr2:132982384-132982385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139568418	chr2:132982386-132982387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145821139	chr2:132982395-132982396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146931904	chr2:132982396-132982397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149297582	chr2:132982398-132982399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577989910	chr2:132982399-132982400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112693347	chr2:132982403-132982404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142475118	chr2:132982407-132982408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141250912	chr2:132982408-132982409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148271172	chr2:132982414-132982415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146086936	chr2:132982420-132982421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377421866	chr2:132982428-132982429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145632863	chr2:132982429-132982430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201655323	chr2:132982436-132982437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374743865	chr2:132982440-132982441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367629085	chr2:132982441-132982442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372172012	chr2:132982443-132982444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374717395	chr2:132982451-132982452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368508191	chr2:132982454-132982455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199939485	chr2:132982458-132982459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140746758	chr2:132982461-132982462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138061588	chr2:132982467-132982468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373710781	chr2:132982468-132982469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111871629	chr2:132982472-132982473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372699672	chr2:132982486-132982487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182975129	chr2:132982491-132982492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200180983	chr2:132982494-132982495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113800926	chr2:132982497-132982498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188952018	chr2:132982499-132982500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62165558	chr2:132982522-132982523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111574324	chr2:132982528-132982529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113399617	chr2:132982545-132982546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372292517	chr2:132982553-132982554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375891740	chr2:132982565-132982566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200986418	chr2:132982576-132982577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140074187	chr2:132982582-132982583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529059837	chr2:132982583-132982584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371378207	chr2:132982589-132982590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112334063	chr2:132982593-132982594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374792125	chr2:132982598-132982599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149912301	chr2:132982601-132982602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368888331	chr2:132982602-132982603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372974424	chr2:132982610-132982611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376116675	chr2:132982616-132982617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369603766	chr2:132982620-132982621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373512869	chr2:132982623-132982624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199782305	chr2:132982626-132982627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144999520	chr2:132982629-132982630	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:54 , 50 per page) page: 1 2

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	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
9	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:132981200-132983000	Weak transcription	K562	blood
11	chr2:132982200-132983800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr2:132982200-132984000	ZNF genes & repeats	HUVEC	blood vessel
13	chr2:132982600-132983800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr2:132982800-132983800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:132982800-132984000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr2:132982800-132984000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:132982800-132984000	ZNF genes & repeats	Liver	Liver
18	chr2:132983000-132983400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:132983400-132984000	ZNF genes & repeats	K562	blood
20	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:132983600-132983800	Active TSS	Hela-S3	cervix
22	chr2:132983600-132984000	ZNF genes & repeats	HSMMtube	muscle
23	chr2:132983600-132984000	ZNF genes & repeats	NH-A	brain
24	chr2:132983800-132984000	Flanking Active TSS	Hela-S3	cervix
25	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
26	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
27	chr2:132984000-132985000	Weak transcription	NH-A	brain
28	chr2:132984000-132994800	Weak transcription	K562	blood
29	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
30	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
36	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
38	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
39	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
40	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
41	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
42	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:132985400-132986600	Weak transcription	Dnd41	blood
44	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:132985400-132986800	Weak transcription	Liver	Liver
50	chr2:132985400-132986800	Weak transcription	Fetal Brain Male	brain

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