Variant report

Variant	esv3355716
Chromosome Location	chr3:84220562-84221810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146136515	chr3:84220587-84220588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370837299	chr3:84220590-84220591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139489473	chr3:84220595-84220596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548927678	chr3:84220603-84220604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61267533	chr3:84220608-84220609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182450776	chr3:84220613-84220614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546769444	chr3:84220618-84220619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9877756	chr3:84220621-84220622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144636332	chr3:84220625-84220626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202182248	chr3:84220626-84220627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377201391	chr3:84220640-84220641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370428355	chr3:84220642-84220643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187140752	chr3:84220644-84220645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537051379	chr3:84220645-84220646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555353220	chr3:84220646-84220647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201299440	chr3:84220647-84220648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573551784	chr3:84220656-84220657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190054896	chr3:84220659-84220660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552774081	chr3:84220661-84220662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577791812	chr3:84220665-84220666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149694750	chr3:84220666-84220667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144423160	chr3:84220672-84220673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563251983	chr3:84220678-84220679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62643885	chr3:84220680-84220681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148408380	chr3:84220688-84220689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542510317	chr3:84220690-84220691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182706163	chr3:84220691-84220692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9878049	chr3:84220694-84220695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147637182	chr3:84220696-84220697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571621395	chr3:84220698-84220699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532755147	chr3:84220702-84220703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551152435	chr3:84220705-84220706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569571519	chr3:84220708-84220709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111211006	chr3:84220720-84220721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142310241	chr3:84220724-84220725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371768100	chr3:84220726-84220727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568354335	chr3:84220728-84220729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534297074	chr3:84220740-84220741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553050940	chr3:84220742-84220743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202044466	chr3:84220752-84220753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544808620	chr3:84220759-84220760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550076693	chr3:84220761-84220762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12108076	chr3:84220767-84220768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575087391	chr3:84220779-84220780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542547301	chr3:84220784-84220785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561002880	chr3:84220788-84220789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528507945	chr3:84220798-84220799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540227493	chr3:84220800-84220801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565387231	chr3:84220801-84220802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111211007	chr3:84220803-84220804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84215200-84248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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