Variant report

Variant	esv3316809
Chromosome Location	chr18:45099773-45100312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528859815	chr18:45099787-45099788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147584486	chr18:45099797-45099798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562736637	chr18:45099852-45099853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531645983	chr18:45099864-45099865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116094383	chr18:45099874-45099875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571457057	chr18:45099898-45099899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374192726	chr18:45099908-45099909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527515649	chr18:45099918-45099919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371623471	chr18:45099925-45099926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547552321	chr18:45099927-45099928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189414697	chr18:45099929-45099930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576961178	chr18:45099945-45099946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536219444	chr18:45099951-45099952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556150316	chr18:45099954-45099955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533143153	chr18:45099956-45099957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538946171	chr18:45100007-45100008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543212525	chr18:45100014-45100015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558860292	chr18:45100046-45100047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36028893	chr18:45100054-45100055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572529882	chr18:45100113-45100114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541636134	chr18:45100120-45100121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376109330	chr18:45100143-45100144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377443984	chr18:45100145-45100146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397813999	chr18:45100189-45100190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553557327	chr18:45100201-45100202	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373420278	chr18:45100206-45100207	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs398032729	chr18:45100211-45100212	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs548161346	chr18:45100236-45100237	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs17736432	chr18:45100257-45100258	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141987663	chr18:45100260-45100261	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562469580	chr18:45100293-45100294	Weak transcription Bivalent Enhancer	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:5 , 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
2	chr18:45098800-45104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:45099000-45103800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:45099000-45104000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:45100200-45100800	Bivalent Enhancer	HepG2	liver

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