Variant report

Variant	esv3505309
Chromosome Location	chr18:44926229-44930077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576139065	chr18:44926237-44926238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555062887	chr18:44926266-44926267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575091253	chr18:44926280-44926281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138146818	chr18:44926325-44926326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80269862	chr18:44926333-44926334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577589268	chr18:44926345-44926346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78060956	chr18:44926397-44926398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142567885	chr18:44926433-44926434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55802477	chr18:44926435-44926436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56317203	chr18:44926503-44926504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545029596	chr18:44926530-44926531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189195628	chr18:44926565-44926566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540772246	chr18:44926576-44926577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560646462	chr18:44926595-44926596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181608455	chr18:44926626-44926627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185780326	chr18:44926636-44926637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569643838	chr18:44926720-44926721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74964725	chr18:44926721-44926722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552413965	chr18:44926742-44926743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565952477	chr18:44926753-44926754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146017624	chr18:44926769-44926770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555148922	chr18:44926797-44926798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71339952	chr18:44926811-44926812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568560383	chr18:44926828-44926829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200123172	chr18:44926831-44926832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190237897	chr18:44926848-44926849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537667942	chr18:44926855-44926856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4407146	chr18:44926860-44926861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577330028	chr18:44926879-44926880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546187241	chr18:44926883-44926884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553582840	chr18:44926884-44926885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34777063	chr18:44926901-44926902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540614009	chr18:44926907-44926908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75176724	chr18:44926921-44926922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114058299	chr18:44926924-44926925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368617505	chr18:44926927-44926928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78705076	chr18:44926933-44926934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563160042	chr18:44926941-44926942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75076124	chr18:44926942-44926943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76469039	chr18:44926949-44926950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76827573	chr18:44926951-44926952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532295548	chr18:44926959-44926960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547151655	chr18:44926969-44926970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71339954	chr18:44926975-44926976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376626272	chr18:44926982-44926983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12958508	chr18:44926984-44926985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78207197	chr18:44926991-44926992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11663352	chr18:44926993-44926994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150521703	chr18:44926994-44926995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12958761	chr18:44927001-44927002	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44925000-44929600	Weak transcription	Pancreas	Pancrea
2	chr18:44929000-44930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44929400-44930000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr18:44929600-44930000	Enhancers	Pancreas	Pancrea
5	chr18:44930000-44930200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:44930000-44931200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:44930000-44932800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:44930000-44932800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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