Variant report

Variant	nsv1002841
Chromosome Location	chr2:49747904-49863227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
2	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
3	chr2:49843797..49844715-chr2:50070161..50071037,2	MCF-7	breast:
4	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:

Extended variants
information (count: 662 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116096613	chr2:49789242-49789243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9653527	chr2:49789280-49789281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532712345	chr2:49789309-49789310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2350323	chr2:49789338-49789339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565703449	chr2:49789354-49789355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148148905	chr2:49789378-49789379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141085471	chr2:49789379-49789380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150282585	chr2:49789434-49789435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2882379	chr2:49789443-49789444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188811242	chr2:49789478-49789479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558836927	chr2:49789537-49789538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570738990	chr2:49789544-49789545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4338999	chr2:49789549-49789550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2882380	chr2:49789554-49789555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs137892969	chr2:49789557-49789558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542656700	chr2:49789563-49789564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534375596	chr2:49789573-49789574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554600931	chr2:49789579-49789580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371337315	chr2:49789584-49789585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543604015	chr2:49789625-49789626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557580792	chr2:49789638-49789639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191286775	chr2:49789688-49789689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4270384	chr2:49789693-49789694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183865056	chr2:49789698-49789699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572084194	chr2:49789772-49789773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559816467	chr2:49789774-49789775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529651520	chr2:49789788-49789789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1498808	chr2:49789838-49789839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202207580	chr2:49789852-49789853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187073530	chr2:49789865-49789866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191886647	chr2:49789887-49789888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200319032	chr2:49789922-49789923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552386895	chr2:49789924-49789925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560798259	chr2:49789959-49789960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185124022	chr2:49789960-49789961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143374317	chr2:49789962-49789963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17038957	chr2:49789969-49789970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556293126	chr2:49789979-49789980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568271160	chr2:49789992-49789993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552271050	chr2:49790204-49790205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564026153	chr2:49790222-49790223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528252652	chr2:49790263-49790264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531416347	chr2:49790274-49790275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546521930	chr2:49790278-49790279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563506301	chr2:49790279-49790280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532226961	chr2:49790303-49790304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180765219	chr2:49790311-49790312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535414034	chr2:49790314-49790315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144537307	chr2:49790385-49790386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569681335	chr2:49790411-49790412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bladder cancer	21909424	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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49789200-49790000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:49789800-49790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:49790200-49791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:49791400-49791800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:49793600-49794200	Enhancers	Fetal Brain Male	brain
6	chr2:49794200-49796600	Weak transcription	Fetal Brain Male	brain
7	chr2:49796600-49797000	Enhancers	Fetal Brain Male	brain
8	chr2:49810000-49811600	Enhancers	Fetal Stomach	stomach
9	chr2:49825200-49826200	Enhancers	Fetal Heart	heart
10	chr2:49847800-49848800	Enhancers	Fetal Heart	heart
11	chr2:49848400-49849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:49859000-49866400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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