Variant report

Variant	esv3692789
Chromosome Location	chr3:83554093-83561127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537124374	chr3:83560609-83560610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550632298	chr3:83560623-83560624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550249451	chr3:83560639-83560640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539012447	chr3:83560641-83560642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182272766	chr3:83560642-83560643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187473324	chr3:83560673-83560674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370378835	chr3:83560674-83560675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554662410	chr3:83560675-83560676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375232402	chr3:83560689-83560690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75209897	chr3:83560719-83560720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543495326	chr3:83560738-83560739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4605563	chr3:83560788-83560789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577164736	chr3:83560843-83560844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545790189	chr3:83560863-83560864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540235839	chr3:83560867-83560868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563995532	chr3:83560883-83560884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9839870	chr3:83560933-83560934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375366436	chr3:83560939-83560940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189612908	chr3:83560943-83560944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561851852	chr3:83560962-83560963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371484676	chr3:83560998-83560999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75332295	chr3:83561005-83561006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114593313	chr3:83561008-83561009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182216326	chr3:83561033-83561034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116734506	chr3:83561035-83561036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539375889	chr3:83561105-83561106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71616486	chr3:83561110-83561111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200734137	chr3:83561112-83561113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75739725	chr3:83561117-83561118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77176204	chr3:83561121-83561122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375397964	chr3:83561126-83561127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2318135	chr3:83561127-83561128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Splenic marginal zone lymphoma	21957467	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83560600-83560800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:83560800-83564200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links