Variant report

Variant	nsv873858
Chromosome Location	chr2:35909000-35939199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 252 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs925910	chr2:35909000-35909001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182885185	chr2:35909012-35909013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534400882	chr2:35909054-35909055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559247604	chr2:35909081-35909082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80002082	chr2:35909101-35909102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538245554	chr2:35909153-35909154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187399220	chr2:35909168-35909169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575154557	chr2:35909207-35909208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575050315	chr2:35909240-35909241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191482776	chr2:35909242-35909243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572656851	chr2:35909274-35909275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113153162	chr2:35909281-35909282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114312250	chr2:35909285-35909286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548186775	chr2:35909296-35909297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs925911	chr2:35909305-35909306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367641554	chr2:35909328-35909329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184062936	chr2:35909329-35909330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76922456	chr2:35909330-35909331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530053561	chr2:35909386-35909387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138025873	chr2:35909387-35909388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59151177	chr2:35909409-35909410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13031628	chr2:35909410-35909411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62145420	chr2:35909414-35909415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62145421	chr2:35909420-35909421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138525303	chr2:35909421-35909422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62145422	chr2:35909424-35909425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386644802	chr2:35909452-35909453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116420643	chr2:35909453-35909454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564691718	chr2:35909460-35909461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79966112	chr2:35909476-35909477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370065766	chr2:35909478-35909479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192663485	chr2:35909497-35909498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373713885	chr2:35909523-35909524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13031674	chr2:35909530-35909531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150376242	chr2:35909561-35909562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13032391	chr2:35909573-35909574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568795648	chr2:35909576-35909577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184461833	chr2:35909621-35909622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190624539	chr2:35909630-35909631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538756512	chr2:35909638-35909639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138109196	chr2:35909682-35909683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13008963	chr2:35909684-35909685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs36113363	chr2:35909725-35909726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576983968	chr2:35909742-35909743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142544168	chr2:35909791-35909792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562646446	chr2:35909879-35909880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76691450	chr2:35909880-35909881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542289245	chr2:35909885-35909886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371429229	chr2:35909905-35909906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13032733	chr2:35909924-35909925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
4	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
9	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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