Variant report

Variant	nsv116304
Chromosome Location	chr18:39546142-39546143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39541005..39543575-chr18:39545049..39547363,2	K562	blood:
2	chr18:39543831..39546776-chr18:39549951..39551574,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 67 )

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	rs113792983	chr18:39546142-39546143	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39547000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:39536000-39547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:39536000-39547000	Weak transcription	Left Ventricle	heart
4	chr18:39536000-39547200	Weak transcription	Esophagus	oesophagus
5	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
6	chr18:39536200-39547000	Weak transcription	Right Ventricle	heart
7	chr18:39536200-39547000	Weak transcription	Thymus	Thymus
8	chr18:39536200-39548000	Weak transcription	Colonic Mucosa	Colon
9	chr18:39536200-39552400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:39536200-39564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:39536400-39552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:39536400-39578200	Weak transcription	A549	lung
14	chr18:39536800-39546800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:39536800-39547000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:39536800-39547000	Weak transcription	Aorta	Aorta
17	chr18:39536800-39547000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr18:39536800-39547000	Weak transcription	Spleen	Spleen
19	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:39537000-39547600	Weak transcription	Fetal Brain Male	brain
22	chr18:39537400-39546600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:39537400-39547000	Strong transcription	HSMM	muscle
24	chr18:39537400-39547200	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:39537400-39552400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:39537400-39553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:39537400-39555800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:39537600-39547000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:39537600-39552200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr18:39537600-39552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:39537600-39553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:39537800-39547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr18:39538600-39546800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:39538600-39547000	Weak transcription	Brain Germinal Matrix	brain
35	chr18:39538600-39548400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:39539000-39547000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:39539200-39546800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr18:39539200-39547000	Weak transcription	NHEK	skin
39	chr18:39539400-39548200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:39539600-39548200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:39540200-39548200	Strong transcription	K562	blood
42	chr18:39541000-39546800	Weak transcription	Fetal Stomach	stomach
43	chr18:39541000-39547000	Weak transcription	Fetal Intestine Small	intestine
44	chr18:39541000-39547000	Weak transcription	Pancreas	Pancrea
45	chr18:39541400-39547000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:39541600-39549600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:39542400-39546200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:39542400-39547000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:39542400-39548200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr18:39542400-39548200	Strong transcription	Rectal Mucosa Donor 29	rectum

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