Variant report

Variant	esv2005891
Chromosome Location	chr3:20249175-20249648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575517394	chr3:20249198-20249199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546202337	chr3:20249200-20249201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140281236	chr3:20249235-20249236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555554522	chr3:20249241-20249242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573617146	chr3:20249276-20249277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540818282	chr3:20249300-20249301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145289975	chr3:20249304-20249305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185827896	chr3:20249317-20249318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78986518	chr3:20249341-20249342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541517961	chr3:20249361-20249362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55747840	chr3:20249376-20249377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372218165	chr3:20249400-20249401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6778969	chr3:20249405-20249406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530396810	chr3:20249417-20249418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140101742	chr3:20249419-20249420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556862134	chr3:20249420-20249421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143752557	chr3:20249421-20249422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76162258	chr3:20249424-20249425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9827459	chr3:20249485-20249486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111894364	chr3:20249550-20249551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111491269	chr3:20249554-20249555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113379158	chr3:20249567-20249568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113862946	chr3:20249571-20249572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189895552	chr3:20249600-20249601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79001595	chr3:20249606-20249607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20246000-20259000	Weak transcription	Ovary	ovary
2	chr3:20248600-20253800	Weak transcription	Aorta	Aorta

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