Variant report

Variant	esv1010724
Chromosome Location	chr2:142014854-142023254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs62172884	chr2:142014859-142014860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563482282	chr2:142014888-142014889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532330758	chr2:142014948-142014949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142288642	chr2:142015045-142015046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565758220	chr2:142015129-142015130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528038097	chr2:142015147-142015148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78196581	chr2:142015155-142015156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182830325	chr2:142015235-142015236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145925469	chr2:142015245-142015246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77455689	chr2:142015246-142015247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536593737	chr2:142015257-142015258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571152933	chr2:142015258-142015259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373133073	chr2:142015263-142015264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570211821	chr2:142015278-142015279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539012620	chr2:142015299-142015300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377403800	chr2:142015304-142015305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147831770	chr2:142015317-142015318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187724304	chr2:142015331-142015332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371002315	chr2:142015339-142015340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192879018	chr2:142015341-142015342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140497230	chr2:142015349-142015350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375913132	chr2:142015356-142015357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150440141	chr2:142015399-142015400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs642332	chr2:142015410-142015411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563383060	chr2:142015429-142015430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200715069	chr2:142015470-142015471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76865068	chr2:142015473-142015474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398090721	chr2:142015474-142015475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28582478	chr2:142015491-142015492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113933525	chr2:142015496-142015497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559177013	chr2:142015547-142015548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs381144	chr2:142015558-142015559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576707407	chr2:142015583-142015584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs442660	chr2:142015586-142015587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188824925	chr2:142015622-142015623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561313663	chr2:142015680-142015681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117581690	chr2:142015705-142015706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550650041	chr2:142015773-142015774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192153442	chr2:142015774-142015775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs300409	chr2:142015905-142015906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1851162	chr2:142015916-142015917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566340319	chr2:142015917-142015918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559445198	chr2:142015948-142015949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112245247	chr2:142015970-142015971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145013681	chr2:142016019-142016020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184551546	chr2:142016069-142016070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574773621	chr2:142016102-142016103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543592666	chr2:142016130-142016131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138998479	chr2:142016157-142016158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190647207	chr2:142016214-142016215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142013400-142018400	Weak transcription	Fetal Heart	heart
2	chr2:142017000-142017200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:142018400-142019000	Enhancers	Fetal Heart	heart
4	chr2:142018600-142019000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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