Variant report

Variant	esv3428959
Chromosome Location	chr2:51487548-51491046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557107127	chr2:51487548-51487549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189584778	chr2:51487559-51487560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149438437	chr2:51487609-51487610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553103753	chr2:51487638-51487639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566283045	chr2:51487645-51487646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57393504	chr2:51487742-51487743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111525965	chr2:51487765-51487766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75642936	chr2:51487766-51487767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537852732	chr2:51487774-51487775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555320749	chr2:51487786-51487787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576640744	chr2:51487793-51487794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542730151	chr2:51487848-51487849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71404995	chr2:51487878-51487879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181885877	chr2:51487880-51487881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566026344	chr2:51487886-51487887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5831171	chr2:51487887-51487888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558937359	chr2:51487972-51487973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141856982	chr2:51487984-51487985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373293595	chr2:51487985-51487986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184784422	chr2:51487990-51487991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559374295	chr2:51487991-51487992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529848528	chr2:51488068-51488069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144831094	chr2:51488086-51488087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368711887	chr2:51488099-51488100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563455992	chr2:51488156-51488157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140338462	chr2:51488227-51488228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57160873	chr2:51488247-51488248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551474355	chr2:51488248-51488249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531526907	chr2:51488317-51488318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188361255	chr2:51488323-51488324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114857125	chr2:51488339-51488340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571746078	chr2:51488361-51488362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528068753	chr2:51488389-51488390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546730181	chr2:51488401-51488402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568129928	chr2:51488415-51488416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13420545	chr2:51488425-51488426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576953629	chr2:51488448-51488449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17041489	chr2:51488459-51488460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180672137	chr2:51488476-51488477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554211022	chr2:51488482-51488483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115518020	chr2:51488542-51488543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558983520	chr2:51488552-51488553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144153342	chr2:51488554-51488555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58610872	chr2:51488561-51488562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541535284	chr2:51488629-51488630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574562959	chr2:51488661-51488662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375029548	chr2:51488663-51488664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17041492	chr2:51488676-51488677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563530762	chr2:51488698-51488699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7559119	chr2:51488717-51488718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51487000-51490600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:51489600-51492000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:51489800-51491600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:51490000-51491800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:51490400-51490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:51490400-51491200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:51490400-51491800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:51490400-51492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:51490400-51492000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:51490400-51492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:51490600-51491400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:51490600-51492000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:51490600-51492000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:51490600-51499000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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