Variant report

Variant	esv3430496
Chromosome Location	chr2:126929782-126933180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202078021	chr2:126929818-126929819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146184422	chr2:126929826-126929827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546318919	chr2:126929861-126929862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557014769	chr2:126929889-126929890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28521446	chr2:126929930-126929931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183984691	chr2:126929967-126929968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566484611	chr2:126929968-126929969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200563586	chr2:126929993-126929994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201408462	chr2:126929995-126929996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181416415	chr2:126930007-126930008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535263256	chr2:126930023-126930024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540513817	chr2:126930033-126930034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185903141	chr2:126930060-126930061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558079268	chr2:126930076-126930077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189576509	chr2:126930123-126930124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551903418	chr2:126930133-126930134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181994362	chr2:126930138-126930139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531415109	chr2:126930148-126930149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548352402	chr2:126930154-126930155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369450227	chr2:126930161-126930162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568253272	chr2:126930217-126930218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187439697	chr2:126930249-126930250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547666794	chr2:126930277-126930278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138651237	chr2:126930287-126930288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538987649	chr2:126930288-126930289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558664323	chr2:126930313-126930314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575622142	chr2:126930320-126930321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141175384	chr2:126930328-126930329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62159733	chr2:126930395-126930396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377393931	chr2:126930408-126930409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538320116	chr2:126930411-126930412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190327782	chr2:126930446-126930447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28491437	chr2:126930451-126930452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372249453	chr2:126930461-126930462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150740778	chr2:126930490-126930491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577454824	chr2:126930528-126930529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546506425	chr2:126930557-126930558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77644523	chr2:126930602-126930603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375198566	chr2:126930603-126930604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531376084	chr2:126930608-126930609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34795537	chr2:126930727-126930728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548268172	chr2:126930745-126930746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139074369	chr2:126930775-126930776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527452833	chr2:126930783-126930784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369228521	chr2:126930854-126930855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547288764	chr2:126930879-126930880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574115790	chr2:126930904-126930905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570659393	chr2:126930919-126930920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539331757	chr2:126930941-126930942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78333659	chr2:126930945-126930946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126929200-126934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126932600-126934200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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