Variant report

Variant	esv3506164
Chromosome Location	chr18:393297-393458
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	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
2	chr18:362806..364833-chr18:392678..394320,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529957039	chr18:393347-393348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76949094	chr18:393355-393356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200209643	chr18:393406-393407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60967731	chr18:393421-393422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72859299	chr18:393458-393459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:379000-393800	Weak transcription	Brain Hippocampus Middle	brain
2	chr18:383200-393600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:387000-395600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:389400-393800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:389800-400800	Enhancers	Fetal Muscle Leg	muscle
6	chr18:390200-395000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:390400-395000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:390600-395400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:391000-393800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:391200-394200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr18:391400-393600	Weak transcription	Placenta	Placenta
12	chr18:391400-399200	Weak transcription	Lung	lung
13	chr18:392000-401200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:392400-397200	Enhancers	Adipose Nuclei	Adipose
15	chr18:392600-395200	Enhancers	NHDF-Ad	bronchial
16	chr18:392600-396600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr18:392600-396600	Enhancers	Rectal Smooth Muscle	rectum
18	chr18:392600-401600	Enhancers	Fetal Stomach	stomach
19	chr18:392600-401800	Enhancers	Fetal Lung	lung
20	chr18:392800-394800	Enhancers	Stomach Smooth Muscle	stomach
21	chr18:392800-394800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr18:392800-397200	Enhancers	Colon Smooth Muscle	Colon
23	chr18:393000-393600	Enhancers	Brain Anterior Caudate	brain
24	chr18:393200-393800	Enhancers	Brain Germinal Matrix	brain
25	chr18:393200-393800	Enhancers	Fetal Intestine Large	intestine
26	chr18:393200-394200	Weak transcription	Brain Substantia Nigra	brain
27	chr18:393200-394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr18:393200-394800	Weak transcription	Brain Angular Gyrus	brain
29	chr18:393200-433000	Weak transcription	Fetal Brain Male	brain
30	chr18:393400-394800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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