Variant report

Variant	esv2031129
Chromosome Location	chr3:34531964-34532493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 74 )

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	rs527874967	chr3:34531969-34531970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552541666	chr3:34531970-34531971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571103523	chr3:34532010-34532011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73058737	chr3:34532026-34532027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568646371	chr3:34532047-34532048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549761876	chr3:34532061-34532062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575486102	chr3:34532081-34532082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568086652	chr3:34532091-34532092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185750411	chr3:34532093-34532094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189607514	chr3:34532097-34532098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192076296	chr3:34532113-34532114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572086859	chr3:34532159-34532160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568950257	chr3:34532227-34532228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557698713	chr3:34532241-34532242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576273357	chr3:34532283-34532284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543329932	chr3:34532300-34532301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142028787	chr3:34532314-34532315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386508419	chr3:34532315-34532316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138264857	chr3:34532400-34532401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557647972	chr3:34532408-34532409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541859190	chr3:34532409-34532410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141339203	chr3:34532427-34532428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527810266	chr3:34532484-34532485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34525400-34533200	Weak transcription	Aorta	Aorta

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