Variant report

Variant	esv15407
Chromosome Location	chr2:36101229-36113833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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	rs75914147	chr2:36101244-36101245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533768845	chr2:36101340-36101341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558682628	chr2:36101414-36101415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577072123	chr2:36101422-36101423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35509807	chr2:36101438-36101439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540357537	chr2:36101448-36101449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190466235	chr2:36101461-36101462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574924511	chr2:36101499-36101500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1519694	chr2:36101506-36101507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573701036	chr2:36101510-36101511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183068747	chr2:36101543-36101544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187046342	chr2:36101552-36101553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2949036	chr2:36101595-36101596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148277619	chr2:36101644-36101645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7557476	chr2:36101663-36101664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550497328	chr2:36101673-36101674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545579091	chr2:36101708-36101709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201601643	chr2:36101709-36101710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562036885	chr2:36101716-36101717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529677404	chr2:36101745-36101746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560549213	chr2:36101802-36101803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191856126	chr2:36101845-36101846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115836294	chr2:36101864-36101865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549079008	chr2:36101912-36101913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13009700	chr2:36101963-36101964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552089574	chr2:36101993-36101994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13009346	chr2:36101999-36102000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7584203	chr2:36102001-36102002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184280169	chr2:36102016-36102017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574761807	chr2:36102043-36102044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535874116	chr2:36102073-36102074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554176784	chr2:36102093-36102094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572459189	chr2:36102119-36102120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546234666	chr2:36102146-36102147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550717444	chr2:36102203-36102204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111727952	chr2:36102219-36102220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576618854	chr2:36102260-36102261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569125568	chr2:36102306-36102307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543595566	chr2:36102362-36102363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562073900	chr2:36102366-36102367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116225568	chr2:36102367-36102368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547790589	chr2:36102440-36102441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141241916	chr2:36102484-36102485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13015448	chr2:36102489-36102490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552287276	chr2:36102509-36102510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566707748	chr2:36102527-36102528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533843678	chr2:36102531-36102532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540786733	chr2:36102533-36102534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187563044	chr2:36102559-36102560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192806952	chr2:36102638-36102639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36098000-36102800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36102200-36103000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:36102800-36103000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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