Variant report

Variant	esv18313
Chromosome Location	chr2:142229808-142230652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
2	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62166283	chr2:142229817-142229818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534078759	chr2:142229836-142229837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6731387	chr2:142229837-142229838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184991210	chr2:142229901-142229902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368782428	chr2:142229906-142229907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75975326	chr2:142229912-142229913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115857600	chr2:142229918-142229919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118190028	chr2:142229923-142229924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556643936	chr2:142229930-142229931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527408414	chr2:142229936-142229937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190198116	chr2:142229937-142229938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566749484	chr2:142229938-142229939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72849053	chr2:142229945-142229946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75607766	chr2:142229961-142229962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79927883	chr2:142229967-142229968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6746208	chr2:142229981-142229982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79426799	chr2:142229991-142229992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13393425	chr2:142229995-142229996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540753020	chr2:142230004-142230005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112528034	chr2:142230008-142230009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187279640	chr2:142230010-142230011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34164719	chr2:142230034-142230035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576876969	chr2:142230035-142230036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144279665	chr2:142230052-142230053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147805785	chr2:142230053-142230054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35066985	chr2:142230070-142230071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34168220	chr2:142230141-142230142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62166285	chr2:142230153-142230154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13432585	chr2:142230158-142230159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529489342	chr2:142230160-142230161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549171193	chr2:142230178-142230179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569395939	chr2:142230180-142230181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375890261	chr2:142230182-142230183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538173041	chr2:142230187-142230188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13393653	chr2:142230192-142230193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571581373	chr2:142230229-142230230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35133006	chr2:142230261-142230262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554348621	chr2:142230288-142230289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35293746	chr2:142230328-142230329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536704567	chr2:142230358-142230359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34470585	chr2:142230362-142230363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555068658	chr2:142230366-142230367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143202346	chr2:142230368-142230369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55905127	chr2:142230371-142230372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200925456	chr2:142230372-142230373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545001307	chr2:142230387-142230388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201818000	chr2:142230393-142230394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541141145	chr2:142230395-142230396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565168754	chr2:142230440-142230441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35469396	chr2:142230446-142230447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142227000-142238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:142229200-142239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:142230600-142231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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