Variant report

Variant	nsv961421
Chromosome Location	chr2:77552899-77554467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556103346	chr2:77552925-77552926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569957844	chr2:77552927-77552928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73941206	chr2:77552941-77552942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558776630	chr2:77552956-77552957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6753318	chr2:77552987-77552988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs140192967	chr2:77552988-77552989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533938161	chr2:77553039-77553040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1505224	chr2:77553054-77553055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555228319	chr2:77553135-77553136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188874197	chr2:77553163-77553164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544145476	chr2:77553180-77553181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562466897	chr2:77553181-77553182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10193607	chr2:77553197-77553198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545036135	chr2:77553225-77553226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76131488	chr2:77553231-77553232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193123129	chr2:77553243-77553244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527421203	chr2:77553244-77553245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547169349	chr2:77553326-77553327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567138973	chr2:77553333-77553334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12619282	chr2:77553370-77553371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs182682094	chr2:77553390-77553391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116580728	chr2:77553398-77553399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370028145	chr2:77553403-77553404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538644608	chr2:77553506-77553507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187721902	chr2:77553525-77553526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566018100	chr2:77553530-77553531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555707652	chr2:77553548-77553549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555169201	chr2:77553600-77553601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575096869	chr2:77553605-77553606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544085357	chr2:77553634-77553635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191602242	chr2:77553667-77553668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577506858	chr2:77553716-77553717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367920309	chr2:77553738-77553739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146931497	chr2:77553765-77553766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137863697	chr2:77553768-77553769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527357814	chr2:77553769-77553770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567420523	chr2:77553780-77553781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538759161	chr2:77553828-77553829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375679759	chr2:77553858-77553859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs290039	chr2:77553930-77553931	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs72809167	chr2:77553931-77553932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576010128	chr2:77553987-77553988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538499200	chr2:77553996-77553997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529836737	chr2:77554017-77554018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558223612	chr2:77554028-77554029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549988385	chr2:77554065-77554066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115751483	chr2:77554075-77554076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12468248	chr2:77554102-77554103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372446871	chr2:77554105-77554106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552259024	chr2:77554206-77554207	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77549200-77554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:77553800-77556000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:77553800-77556200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:77554000-77554200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:77554000-77556000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77554000-77556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:77554000-77556400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:77554000-77556400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:77554400-77555400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:77554400-77556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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