Variant report

Variant	esv3451051
Chromosome Location	chr2:132984287-132985789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs112183858	chr2:132984287-132984288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200547405	chr2:132984293-132984294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563627041	chr2:132984312-132984313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530938663	chr2:132984313-132984314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140842801	chr2:132984319-132984320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79831626	chr2:132984320-132984321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201368370	chr2:132984335-132984336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182406013	chr2:132984336-132984337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201634934	chr2:132984337-132984338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571222259	chr2:132984340-132984341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538516496	chr2:132984343-132984344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547265835	chr2:132984345-132984346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565570241	chr2:132984354-132984355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536046296	chr2:132984362-132984363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112984227	chr2:132984372-132984373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554693738	chr2:132984406-132984407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576005370	chr2:132984413-132984414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62166071	chr2:132984442-132984443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79782981	chr2:132984445-132984446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78652228	chr2:132984452-132984453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76062178	chr2:132984455-132984456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200391873	chr2:132984472-132984473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200807550	chr2:132984474-132984475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558561713	chr2:132984476-132984477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79176123	chr2:132984481-132984482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62166072	chr2:132984501-132984502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62166073	chr2:132984508-132984509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199501720	chr2:132984516-132984517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62166086	chr2:132984517-132984518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62166087	chr2:132984521-132984522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62166088	chr2:132984531-132984532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62166089	chr2:132984535-132984536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201424113	chr2:132984538-132984539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191811166	chr2:132984555-132984556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62166090	chr2:132984559-132984560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200377805	chr2:132984567-132984568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62166091	chr2:132984576-132984577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576889185	chr2:132984585-132984586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541782796	chr2:132984589-132984590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199748418	chr2:132984592-132984593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62166092	chr2:132984594-132984595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62166093	chr2:132984596-132984597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141386097	chr2:132984601-132984602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62166094	chr2:132984602-132984603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62166095	chr2:132984607-132984608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138413956	chr2:132984613-132984614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553693195	chr2:132984615-132984616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199602309	chr2:132984618-132984619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575133563	chr2:132984623-132984624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62166096	chr2:132984625-132984626	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
6	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
7	chr2:132984000-132985000	Weak transcription	NH-A	brain
8	chr2:132984000-132994800	Weak transcription	K562	blood
9	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
16	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
18	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
19	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
20	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
21	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
22	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:132985400-132986600	Weak transcription	Dnd41	blood
24	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:132985400-132986800	Weak transcription	Liver	Liver
30	chr2:132985400-132986800	Weak transcription	Fetal Brain Male	brain
31	chr2:132985400-132986800	Weak transcription	Psoas Muscle	Psoas
32	chr2:132985400-132987000	Weak transcription	NH-A	brain
33	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
34	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
35	chr2:132985600-132987400	Weak transcription	Osteobl	bone

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