Variant report

Variant	esv3460921
Chromosome Location	chr2:133643486-133645272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566094821	chr2:133643504-133643505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527723523	chr2:133643530-133643531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201701570	chr2:133643542-133643543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555938362	chr2:133643578-133643579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74889765	chr2:133643580-133643581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536613803	chr2:133643596-133643597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555110016	chr2:133643598-133643599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550771509	chr2:133643620-133643621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12613117	chr2:133643643-133643644	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201619291	chr2:133643743-133643744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201868389	chr2:133643749-133643750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75042671	chr2:133643750-133643751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537535876	chr2:133643782-133643783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192716398	chr2:133643791-133643792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs117094488	chr2:133643793-133643794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534683196	chr2:133643845-133643846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553148618	chr2:133643870-133643871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148640240	chr2:133643875-133643876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574391139	chr2:133643903-133643904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541387893	chr2:133643943-133643944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56662256	chr2:133644019-133644020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142108467	chr2:133644024-133644025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574672982	chr2:133644026-133644027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56296021	chr2:133644052-133644053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564342521	chr2:133644110-133644111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528252528	chr2:133644134-133644135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546887631	chr2:133644142-133644143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373936510	chr2:133644151-133644152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183617085	chr2:133644154-133644155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530120414	chr2:133644175-133644176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557125251	chr2:133644221-133644222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1374742	chr2:133644246-133644247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570053647	chr2:133644254-133644255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151155443	chr2:133644273-133644274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139431455	chr2:133644282-133644283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571044482	chr2:133644309-133644310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534873061	chr2:133644311-133644312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375187600	chr2:133644339-133644340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574747672	chr2:133644352-133644353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542116829	chr2:133644361-133644362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556579348	chr2:133644421-133644422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574878521	chr2:133644428-133644429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545523185	chr2:133644433-133644434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563999224	chr2:133644450-133644451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144961167	chr2:133644468-133644469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540006452	chr2:133644496-133644497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115341893	chr2:133644539-133644540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529241833	chr2:133644594-133644595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550876137	chr2:133644607-133644608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187526074	chr2:133644619-133644620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133621000-133645200	Weak transcription	Left Ventricle	heart
2	chr2:133642600-133646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133643400-133643800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:133645200-133645400	ZNF genes & repeats	Left Ventricle	heart

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