Variant report

Variant	esv3324523
Chromosome Location	chr3:88575162-88579960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141405873	chr3:88577631-88577632	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147461145	chr3:88577653-88577654	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573601790	chr3:88577654-88577655	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191601830	chr3:88577682-88577683	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544160303	chr3:88577684-88577685	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116821635	chr3:88577708-88577709	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372124091	chr3:88577716-88577717	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544884392	chr3:88577732-88577733	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368500391	chr3:88577745-88577746	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199523188	chr3:88577753-88577754	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182401634	chr3:88577792-88577793	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9850844	chr3:88577802-88577803	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542419056	chr3:88577890-88577891	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545155809	chr3:88577913-88577914	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529334390	chr3:88577922-88577923	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139947469	chr3:88577931-88577932	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112728973	chr3:88577932-88577933	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573785039	chr3:88577933-88577934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200818839	chr3:88577935-88577936	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369137415	chr3:88577951-88577952	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533716039	chr3:88577956-88577957	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547271313	chr3:88577960-88577961	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88577600-88577800	ZNF genes & repeats	Spleen	Spleen
2	chr3:88577600-88578000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:88577600-88578000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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