Variant report

Variant	esv3522440
Chromosome Location	chr3:21991456-21993737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142530149	chr3:21991501-21991502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369189665	chr3:21991511-21991512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540415929	chr3:21991515-21991516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180706987	chr3:21991530-21991531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144610034	chr3:21991547-21991548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150532222	chr3:21991602-21991603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185707349	chr3:21991614-21991615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549337321	chr3:21991638-21991639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561515342	chr3:21991659-21991660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531753396	chr3:21991662-21991663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7639569	chr3:21991684-21991685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571359892	chr3:21991697-21991698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7631845	chr3:21991705-21991706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547759260	chr3:21991745-21991746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566699836	chr3:21991759-21991760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576909087	chr3:21991762-21991763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7639658	chr3:21991768-21991769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555308854	chr3:21991769-21991770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4271936	chr3:21991781-21991782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538012193	chr3:21991796-21991797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4440143	chr3:21991834-21991835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577775720	chr3:21991857-21991858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4420894	chr3:21991871-21991872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553727448	chr3:21991888-21991889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542073616	chr3:21991892-21991893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145139137	chr3:21991947-21991948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149132388	chr3:21991958-21991959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560744497	chr3:21991969-21991970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4610243	chr3:21991990-21991991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147880399	chr3:21991994-21991995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4610244	chr3:21992031-21992032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565077493	chr3:21992067-21992068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35233605	chr3:21992078-21992079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566590452	chr3:21992129-21992130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532466052	chr3:21992152-21992153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4627765	chr3:21992220-21992221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548944464	chr3:21992225-21992226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4441677	chr3:21992254-21992255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190124366	chr3:21992256-21992257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373873964	chr3:21992262-21992263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567523119	chr3:21992275-21992276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538049322	chr3:21992303-21992304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36151232	chr3:21992351-21992352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527517	chr3:21992352-21992353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538708599	chr3:21992356-21992357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553549516	chr3:21992397-21992398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142588009	chr3:21992400-21992401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542209010	chr3:21992408-21992409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554850597	chr3:21992415-21992416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576317213	chr3:21992423-21992424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21984600-21996000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:21987400-21993000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:21992800-21994000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:21993000-21993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:21993200-21994000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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