Variant report

Variant	esv1275129
Chromosome Location	chr18:7984680-7984682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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	rs71354584	chr18:7984681-7984682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7959000-7987400	Weak transcription	Ovary	ovary
2	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:7966000-7989600	Weak transcription	Lung	lung
4	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
6	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
9	chr18:7978200-7986400	Weak transcription	Right Atrium	heart
10	chr18:7980200-7985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:7981200-7995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:7982800-7986400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:7982800-7986600	Weak transcription	Osteobl	bone
14	chr18:7982800-7986800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr18:7983000-7986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:7983200-7987000	Weak transcription	NH-A	brain
17	chr18:7983400-7986400	Weak transcription	Left Ventricle	heart
18	chr18:7984400-7985600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:7984400-7986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:7984400-7986200	Weak transcription	Fetal Heart	heart
21	chr18:7984400-7986800	Weak transcription	A549	lung
22	chr18:7984600-7985800	Weak transcription	HepG2	liver

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