Variant report

Variant	esv1823341
Chromosome Location	chr2:125107948-125109738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7567224	chr2:125107948-125107949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566332207	chr2:125108001-125108002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs779999	chr2:125108025-125108026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372122951	chr2:125108030-125108031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71641606	chr2:125108031-125108032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187642792	chr2:125108050-125108051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs779998	chr2:125108051-125108052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76777282	chr2:125108052-125108053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545863336	chr2:125108073-125108074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191957724	chr2:125108085-125108086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576002748	chr2:125108122-125108123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561354065	chr2:125108150-125108151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181009838	chr2:125108162-125108163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539449373	chr2:125108189-125108190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs796641	chr2:125108191-125108192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs11378065	chr2:125108208-125108209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140247591	chr2:125108311-125108312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115983630	chr2:125108342-125108343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7582767	chr2:125108364-125108365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185896915	chr2:125108398-125108399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201142358	chr2:125108443-125108444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7609391	chr2:125108452-125108453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376922329	chr2:125108453-125108454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570025277	chr2:125108462-125108463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529293849	chr2:125108526-125108527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549360573	chr2:125108537-125108538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111584791	chr2:125108570-125108571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201425191	chr2:125108574-125108575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398090612	chr2:125108575-125108576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531542317	chr2:125108580-125108581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548445152	chr2:125108610-125108611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190169348	chr2:125108613-125108614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182439206	chr2:125108624-125108625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558418727	chr2:125108637-125108638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571797412	chr2:125108638-125108639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537213088	chr2:125108647-125108648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556245306	chr2:125108720-125108721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576007280	chr2:125108793-125108794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568238832	chr2:125108851-125108852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187395043	chr2:125108890-125108891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143978718	chr2:125108952-125108953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527498981	chr2:125109003-125109004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115631910	chr2:125109160-125109161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566626276	chr2:125109189-125109190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114003282	chr2:125109239-125109240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564159171	chr2:125109286-125109287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558566248	chr2:125109297-125109298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190351521	chr2:125109316-125109317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114863694	chr2:125109349-125109350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529359308	chr2:125109442-125109443	Enhancers	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
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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125105200-125108800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125108800-125109000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:125108800-125109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:125109600-125109800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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