Variant report

Variant	esv3387695
Chromosome Location	chr18:376080-376382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576658743	chr18:376087-376088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59623355	chr18:376136-376137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74672216	chr18:376148-376149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs879739	chr18:376191-376192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547122257	chr18:376226-376227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181290855	chr18:376283-376284	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532365980	chr18:376296-376297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560561854	chr18:376307-376308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550567500	chr18:376319-376320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146631189	chr18:376350-376351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374394417	chr18:376352-376353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:364800-376200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:367200-376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:367200-376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:367400-376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr18:370600-376200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr18:370800-377400	Weak transcription	Colonic Mucosa	Colon
9	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:371200-376600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:372000-379000	Enhancers	NHDF-Ad	bronchial
12	chr18:372200-377200	Weak transcription	Esophagus	oesophagus
13	chr18:372400-377400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:373000-379000	Enhancers	Rectal Smooth Muscle	rectum
15	chr18:373200-380800	Enhancers	Fetal Muscle Leg	muscle
16	chr18:373600-378800	Enhancers	Fetal Stomach	stomach
17	chr18:373800-377600	Enhancers	Fetal Lung	lung
18	chr18:373800-379200	Enhancers	Pancreas	Pancrea
19	chr18:373800-380800	Enhancers	Adipose Nuclei	Adipose
20	chr18:374000-378200	Enhancers	Colon Smooth Muscle	Colon
21	chr18:374000-378800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:374200-376600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr18:374200-377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:374400-377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:374400-377400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:374400-377400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:374400-378400	Enhancers	Stomach Smooth Muscle	stomach
28	chr18:374600-376200	Enhancers	Right Atrium	heart
29	chr18:375000-379600	Weak transcription	Fetal Kidney	kidney
30	chr18:375200-376600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:375200-376800	Weak transcription	Brain Angular Gyrus	brain
32	chr18:375200-379800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr18:375400-376200	Weak transcription	Brain Substantia Nigra	brain
34	chr18:375400-376800	Weak transcription	Fetal Intestine Large	intestine
35	chr18:375400-376800	Weak transcription	Placenta	Placenta
36	chr18:375400-377000	Weak transcription	Left Ventricle	heart
37	chr18:375400-377200	Weak transcription	Lung	lung
38	chr18:375400-378000	Weak transcription	Brain Germinal Matrix	brain
39	chr18:375600-376200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr18:375800-377000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr18:375800-378000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:375800-380800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr18:376000-376200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:376000-376800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:376000-377000	Enhancers	Gastric	stomach
46	chr18:376000-378200	Enhancers	Brain Hippocampus Middle	brain
47	chr18:376000-378800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr18:376200-376400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr18:376200-378000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:376200-378800	Enhancers	Brain Anterior Caudate	brain

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