Variant report

Variant	esv3356591
Chromosome Location	chr2:40718048-40722246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs539263597	chr2:40718061-40718062	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557539563	chr2:40718066-40718067	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569710231	chr2:40718071-40718072	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536787953	chr2:40718099-40718100	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543536843	chr2:40718105-40718106	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78566639	chr2:40718106-40718107	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573559558	chr2:40718147-40718148	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115544003	chr2:40718197-40718198	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150465999	chr2:40718230-40718231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193020162	chr2:40718243-40718244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183071921	chr2:40718281-40718282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564560995	chr2:40718305-40718306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531820198	chr2:40718339-40718340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138316803	chr2:40718340-40718341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562066664	chr2:40718374-40718375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529257775	chr2:40718439-40718440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547253472	chr2:40718486-40718487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566368285	chr2:40718506-40718507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565657706	chr2:40718529-40718530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533085285	chr2:40718571-40718572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551537934	chr2:40718580-40718581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569798952	chr2:40718601-40718602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537102966	chr2:40718721-40718722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187858616	chr2:40718749-40718750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567237225	chr2:40718772-40718773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376424435	chr2:40718778-40718779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4952417	chr2:40718780-40718781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553034234	chr2:40718789-40718790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572764376	chr2:40718849-40718850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546562575	chr2:40718883-40718884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146353147	chr2:40718906-40718907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576560451	chr2:40718948-40718949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192689273	chr2:40718965-40718966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562054163	chr2:40718985-40718986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183701319	chr2:40719015-40719016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541003860	chr2:40719035-40719036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559355709	chr2:40719070-40719071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533055667	chr2:40719096-40719097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551390289	chr2:40719103-40719104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563457868	chr2:40719166-40719167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530635413	chr2:40719170-40719171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549036763	chr2:40719196-40719197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567349070	chr2:40719246-40719247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534746680	chr2:40719269-40719270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546611717	chr2:40719309-40719310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571307825	chr2:40719325-40719326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540076172	chr2:40719362-40719363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189592559	chr2:40719396-40719397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138992742	chr2:40719413-40719414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537268053	chr2:40719436-40719437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40717200-40718200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40717200-40720800	Weak transcription	Right Atrium	heart
3	chr2:40717200-40723400	Weak transcription	Osteobl	bone
4	chr2:40717200-40726600	Weak transcription	Left Ventricle	heart
5	chr2:40717400-40718200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:40718000-40718200	Flanking Active TSS	Fetal Heart	heart
7	chr2:40718000-40725600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:40718200-40718400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:40718200-40720000	Weak transcription	Fetal Heart	heart
10	chr2:40718200-40722600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:40720000-40720200	Genic enhancers	Fetal Heart	heart
12	chr2:40720200-40722200	Enhancers	Fetal Heart	heart
13	chr2:40720800-40721400	Enhancers	Right Atrium	heart
14	chr2:40721400-40723200	Weak transcription	Right Atrium	heart
15	chr2:40722200-40722400	Flanking Active TSS	Fetal Heart	heart

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