Variant report

Variant	esv3462107
Chromosome Location	chr3:82691264-82691561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188455185	chr3:82691269-82691270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564928078	chr3:82691276-82691277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533591564	chr3:82691280-82691281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547183570	chr3:82691319-82691320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373586042	chr3:82691339-82691340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151285787	chr3:82691340-82691341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78499081	chr3:82691375-82691376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529604223	chr3:82691376-82691377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549640266	chr3:82691381-82691382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569165234	chr3:82691384-82691385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115957870	chr3:82691394-82691395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557851335	chr3:82691397-82691398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571372100	chr3:82691433-82691434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34853286	chr3:82691434-82691435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553579023	chr3:82691449-82691450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142506892	chr3:82691452-82691453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570463639	chr3:82691467-82691468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374436412	chr3:82691471-82691472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191547293	chr3:82691479-82691480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138935795	chr3:82691487-82691488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575952275	chr3:82691497-82691498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs834852	chr3:82691531-82691532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148836669	chr3:82691555-82691556	Enhancers	n/a	n/a	Overlapped CNVs	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82689400-82692800	Enhancers	HMEC	breast
2	chr3:82689800-82692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:82690200-82691800	Enhancers	NHEK	skin
4	chr3:82690600-82691400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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