Variant report

Variant	esv1535101
Chromosome Location	chr18:44927098-44927265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76434061	chr18:44927099-44927100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28687120	chr18:44927137-44927138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs76133531	chr18:44927138-44927139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553428912	chr18:44927140-44927141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74620210	chr18:44927154-44927155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77250203	chr18:44927157-44927158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573466899	chr18:44927159-44927160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534344671	chr18:44927166-44927167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554165913	chr18:44927169-44927170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74896732	chr18:44927180-44927181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373309420	chr18:44927194-44927195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79865928	chr18:44927199-44927200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543123932	chr18:44927210-44927211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79237236	chr18:44927218-44927219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77759551	chr18:44927222-44927223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369128596	chr18:44927233-44927234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78654956	chr18:44927244-44927245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77091238	chr18:44927252-44927253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563351423	chr18:44927257-44927258	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	chr18:44925000-44929600	Weak transcription	Pancreas	Pancrea

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