Variant report

Variant	esv1250665
Chromosome Location	chr18:25440650-25440651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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	rs60547680	chr18:25440650-25440651	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25439200-25441400	Enhancers	HMEC	breast
2	chr18:25439400-25440800	Enhancers	Dnd41	blood
3	chr18:25439400-25441200	Enhancers	NHEK	skin
4	chr18:25439400-25442200	Enhancers	Fetal Heart	heart
5	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:25439800-25441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:25440000-25441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:25440000-25441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25440000-25441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:25440000-25441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:25440000-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:25440000-25441200	Enhancers	Left Ventricle	heart
14	chr18:25440000-25441600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:25440000-25441800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:25440000-25441800	Enhancers	Fetal Muscle Leg	muscle
17	chr18:25440000-25441800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:25440400-25440800	Active TSS	HSMM	muscle
20	chr18:25440600-25441000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:25440600-25441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:25440600-25441000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr18:25440600-25441000	Active TSS	HSMMtube	muscle
24	chr18:25440600-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:25440600-25441600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:25440600-25441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr18:25440600-25442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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