Variant report

Variant	esv1139561
Chromosome Location	chr18:45395862-45395863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 87 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61527959	chr18:45395863-45395864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45372200-45396000	Weak transcription	NHLF	lung
4	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
5	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
6	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
7	chr18:45384200-45421200	Weak transcription	Gastric	stomach
8	chr18:45384200-45423000	Weak transcription	Lung	lung
9	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
11	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
14	chr18:45384400-45419600	Weak transcription	K562	blood
15	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
16	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
18	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
20	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
22	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
23	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
25	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
26	chr18:45385800-45396000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:45386400-45401800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:45386600-45396800	Weak transcription	NHEK	skin
29	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:45386800-45397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
33	chr18:45387000-45396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:45387000-45397000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr18:45387000-45397800	Weak transcription	Fetal Intestine Small	intestine
36	chr18:45387000-45397800	Weak transcription	Ovary	ovary
37	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:45387200-45398800	Weak transcription	Left Ventricle	heart
42	chr18:45387400-45397600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr18:45387600-45396000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
45	chr18:45387800-45398200	Strong transcription	Dnd41	blood
46	chr18:45388000-45396000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:45388000-45396000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:45388400-45396000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr18:45388400-45396000	Strong transcription	Liver	Liver
50	chr18:45388400-45397000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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