Variant report

Variant	esv3330528
Chromosome Location	chr18:45095549-45096075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555397011	chr18:45095565-45095566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146931668	chr18:45095567-45095568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571191766	chr18:45095574-45095575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572414154	chr18:45095583-45095584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143314671	chr18:45095584-45095585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150205283	chr18:45095593-45095594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541033763	chr18:45095628-45095629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189559399	chr18:45095696-45095697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564824389	chr18:45095714-45095715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547234294	chr18:45095769-45095770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565595339	chr18:45095807-45095808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534716379	chr18:45095808-45095809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554412608	chr18:45095823-45095824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9944990	chr18:45095830-45095831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536680773	chr18:45095849-45095850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544409983	chr18:45095867-45095868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544114868	chr18:45095903-45095904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137873691	chr18:45095913-45095914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563915114	chr18:45095934-45095935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576749120	chr18:45095939-45095940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141873912	chr18:45096016-45096017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559125879	chr18:45096036-45096037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573002065	chr18:45096043-45096044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386508355	chr18:45096070-45096071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45090200-45103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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