Variant report

Variant	esv3396973
Chromosome Location	chr2:40882008-40883115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40869635..40872329-chr2:40880298..40882464,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551779733	chr2:40882020-40882021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142331965	chr2:40882021-40882022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567005562	chr2:40882059-40882060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144667003	chr2:40882060-40882061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555531441	chr2:40882084-40882085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13016243	chr2:40882097-40882098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542541152	chr2:40882147-40882148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377187226	chr2:40882167-40882168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573983811	chr2:40882173-40882174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76167548	chr2:40882185-40882186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540432187	chr2:40882214-40882215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564782921	chr2:40882221-40882222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556485115	chr2:40882250-40882251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532257898	chr2:40882311-40882312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544196411	chr2:40882360-40882361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17026449	chr2:40882402-40882403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs531224935	chr2:40882405-40882406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12468195	chr2:40882419-40882420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191566258	chr2:40882451-40882452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567956465	chr2:40882495-40882496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199802655	chr2:40882496-40882497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368018974	chr2:40882498-40882499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370187275	chr2:40882499-40882500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373500062	chr2:40882500-40882501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377472971	chr2:40882505-40882506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370924359	chr2:40882506-40882507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375159559	chr2:40882507-40882508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183777720	chr2:40882519-40882520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201386669	chr2:40882558-40882559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80346150	chr2:40882626-40882627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140477595	chr2:40882661-40882662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538781155	chr2:40882663-40882664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6710766	chr2:40882683-40882684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187123257	chr2:40882690-40882691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190883885	chr2:40882758-40882759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150430132	chr2:40882778-40882779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183460919	chr2:40882804-40882805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571915912	chr2:40882843-40882844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186601833	chr2:40882886-40882887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573097835	chr2:40882898-40882899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540026904	chr2:40882955-40882956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558735156	chr2:40882980-40882981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576852798	chr2:40882985-40882986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112413126	chr2:40882995-40882996	Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40880000-40882200	Enhancers	NHEK	skin
2	chr2:40880400-40882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:40880800-40883000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:40882000-40882400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:40882000-40882600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:40882400-40882800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:40882600-40882800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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