Variant report

Variant	nsv524501
Chromosome Location	chr2:123840759-123849482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2661038	chr2:123840759-123840760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533481249	chr2:123840787-123840788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186787977	chr2:123840800-123840801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149372807	chr2:123840804-123840805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11903872	chr2:123840873-123840874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547875364	chr2:123840879-123840880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2661039	chr2:123840895-123840896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192238425	chr2:123840929-123840930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574449988	chr2:123840950-123840951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2661040	chr2:123840955-123840956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12478792	chr2:123840973-123840974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12478793	chr2:123841006-123841007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182317558	chr2:123841010-123841011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144700872	chr2:123841041-123841042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546195689	chr2:123841048-123841049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542285041	chr2:123841055-123841056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12466984	chr2:123841085-123841086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139867121	chr2:123841094-123841095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373968901	chr2:123841128-123841129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541587085	chr2:123841167-123841168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144098332	chr2:123841170-123841171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533611764	chr2:123841209-123841210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147314437	chr2:123841246-123841247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74923257	chr2:123841328-123841329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2661041	chr2:123841342-123841343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547790320	chr2:123841376-123841377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567768349	chr2:123841380-123841381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527416286	chr2:123841413-123841414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564769488	chr2:123841478-123841479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547533969	chr2:123841521-123841522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571329557	chr2:123841553-123841554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376206797	chr2:123841556-123841557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570538258	chr2:123841593-123841594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539666641	chr2:123841651-123841652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79522175	chr2:123841655-123841656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1399642	chr2:123841686-123841687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184992471	chr2:123841688-123841689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561808709	chr2:123841689-123841690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189849020	chr2:123841710-123841711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555822211	chr2:123841716-123841717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572471555	chr2:123841753-123841754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568643418	chr2:123841789-123841790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541152719	chr2:123841812-123841813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558262031	chr2:123841823-123841824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547441564	chr2:123841824-123841825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182250426	chr2:123841831-123841832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543648008	chr2:123841843-123841844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186898583	chr2:123841864-123841865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs957759	chr2:123841876-123841877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541396131	chr2:123841904-123841905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute myeloid leukemia	20729466	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123839400-123844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:123844200-123844800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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