Variant report

Variant	esv3357621
Chromosome Location	chr2:34478198-34480296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547898843	chr2:34478199-34478200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567347752	chr2:34478263-34478264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536487612	chr2:34478280-34478281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7575593	chr2:34478304-34478305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74809105	chr2:34478323-34478324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189362265	chr2:34478395-34478396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368244607	chr2:34478400-34478401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541806637	chr2:34478439-34478440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558146576	chr2:34478491-34478492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571745394	chr2:34478492-34478493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540745667	chr2:34478522-34478523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561082888	chr2:34478536-34478537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574140429	chr2:34478547-34478548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12104530	chr2:34478565-34478566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563128187	chr2:34478572-34478573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72782992	chr2:34478611-34478612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554105838	chr2:34478640-34478641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551765237	chr2:34478692-34478693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565262624	chr2:34478694-34478695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539643012	chr2:34478733-34478734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180810832	chr2:34478753-34478754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73927749	chr2:34478788-34478789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76230841	chr2:34478795-34478796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549973240	chr2:34478821-34478822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13425032	chr2:34478830-34478831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538532465	chr2:34478931-34478932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368637000	chr2:34478934-34478935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186494037	chr2:34478936-34478937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61326734	chr2:34478983-34478984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200479073	chr2:34478986-34478987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190165075	chr2:34478992-34478993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60196746	chr2:34478997-34478998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181090380	chr2:34479007-34479008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374107740	chr2:34479009-34479010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367998054	chr2:34479014-34479015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs70940241	chr2:34479036-34479037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67258832	chr2:34479046-34479047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185874713	chr2:34479054-34479055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190330011	chr2:34479062-34479063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184053189	chr2:34479070-34479071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113974906	chr2:34479103-34479104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61237590	chr2:34479147-34479148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386389900	chr2:34479148-34479149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201237096	chr2:34479149-34479150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551879699	chr2:34479194-34479195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190881065	chr2:34479210-34479211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554850488	chr2:34479216-34479217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554324607	chr2:34479271-34479272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547078885	chr2:34479308-34479309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72782993	chr2:34479326-34479327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34468200-34479200	Weak transcription	Pancreas	Pancrea
2	chr2:34473200-34479200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:34475600-34480800	Enhancers	Fetal Intestine Small	intestine
4	chr2:34477600-34478400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:34477600-34478400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:34477600-34479400	Weak transcription	Fetal Lung	lung
7	chr2:34478400-34479600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:34478400-34480800	Enhancers	Fetal Intestine Large	intestine
9	chr2:34478600-34479800	Enhancers	Fetal Kidney	kidney
10	chr2:34479200-34479400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:34479200-34479400	Enhancers	Pancreas	Pancrea
12	chr2:34479200-34480400	Enhancers	Liver	Liver
13	chr2:34479400-34479600	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:34479400-34479600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:34479400-34479800	Flanking Active TSS	Pancreas	Pancrea
16	chr2:34479400-34480200	Enhancers	Fetal Lung	lung
17	chr2:34479400-34481000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:34479600-34479800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr2:34479800-34480000	Enhancers	Pancreas	Pancrea
20	chr2:34479800-34480000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:34480000-34480200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:34480000-34480400	Weak transcription	Pancreas	Pancrea
23	chr2:34480000-34480400	Enhancers	Stomach Mucosa	stomach
24	chr2:34480200-34480400	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:34480200-34480400	Bivalent Enhancer	Fetal Lung	lung
26	chr2:34480200-34480600	Enhancers	Rectal Mucosa Donor 31	rectum

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