Variant report

Variant	esv2315877
Chromosome Location	chr18:45370336-45370337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45367507..45370509-chr18:45371769..45374946,4	K562	blood:
2	chr18:45368468..45370509-chr18:45372236..45375671,3	K562	blood:
3	chr18:45370062..45371817-chr18:45453252..45455227,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 90 )

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	rs57746325	chr18:45370336-45370337	Weak transcription Strong 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
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45344000-45373000	Weak transcription	Pancreas	Pancrea
3	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
5	chr18:45351000-45374600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
8	chr18:45354800-45370800	Weak transcription	Fetal Brain Male	brain
9	chr18:45355600-45375600	Strong transcription	Hela-S3	cervix
10	chr18:45355600-45375800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:45355600-45376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:45356000-45378000	Weak transcription	Small Intestine	intestine
13	chr18:45356200-45377800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
15	chr18:45356600-45376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:45357200-45373200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:45358600-45376400	Strong transcription	Dnd41	blood
18	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:45359000-45374400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:45359800-45375600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr18:45359800-45375600	Strong transcription	Fetal Thymus	thymus
22	chr18:45360000-45373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:45360000-45375400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:45360000-45375600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:45361400-45375600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:45361400-45375600	Strong transcription	A549	lung
27	chr18:45361400-45376000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:45362400-45373000	Strong transcription	Placenta	Placenta
29	chr18:45362400-45375200	Strong transcription	Primary B cells from cord blood	blood
30	chr18:45362400-45375600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr18:45362600-45371800	Strong transcription	Liver	Liver
32	chr18:45362600-45372400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:45362600-45375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:45363000-45375800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:45363200-45371000	Weak transcription	HMEC	breast
36	chr18:45363400-45373600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:45363800-45375600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr18:45363800-45375600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:45363800-45376400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr18:45364000-45372200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:45364000-45375400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:45364400-45375600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:45364600-45375600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr18:45364600-45376200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr18:45364800-45371200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr18:45364800-45372400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:45364800-45372600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:45365000-45373200	Strong transcription	Fetal Lung	lung
49	chr18:45365000-45373400	Strong transcription	Adipose Nuclei	Adipose
50	chr18:45365200-45373600	Strong transcription	Duodenum Mucosa	Duodenum

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