Variant report

Variant	esv3345763
Chromosome Location	chr18:7736994-7737394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578208684	chr18:7737062-7737063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11660897	chr18:7737082-7737083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186890941	chr18:7737093-7737094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191409252	chr18:7737141-7737142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182816896	chr18:7737160-7737161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149887780	chr18:7737228-7737229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543989617	chr18:7737252-7737253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563869970	chr18:7737301-7737302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529448837	chr18:7737320-7737321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369527729	chr18:7737327-7737328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565005232	chr18:7737329-7737330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370489502	chr18:7737389-7737390	Weak transcription Enhancers	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
2	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach
3	chr18:7729200-7737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:7734000-7737600	Weak transcription	Lung	lung
5	chr18:7734000-7739600	Weak transcription	Fetal Muscle Leg	muscle
6	chr18:7734200-7741000	Weak transcription	Aorta	Aorta
7	chr18:7734400-7737600	Weak transcription	Adipose Nuclei	Adipose
8	chr18:7734400-7741000	Weak transcription	Right Ventricle	heart
9	chr18:7734600-7745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:7735000-7737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:7735000-7739400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:7735200-7740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:7735200-7743000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:7735200-7745200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:7735400-7737200	Weak transcription	Gastric	stomach
16	chr18:7735400-7737400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:7735400-7737400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:7735400-7737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:7735400-7737600	Weak transcription	Left Ventricle	heart
20	chr18:7735400-7737600	Weak transcription	Right Atrium	heart
21	chr18:7735400-7738800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:7735400-7739000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr18:7735400-7741200	Weak transcription	Psoas Muscle	Psoas
24	chr18:7735400-7745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:7735800-7739400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:7735800-7740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:7735800-7741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:7735800-7745200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:7736000-7739600	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:7736200-7737400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr18:7736200-7737600	Weak transcription	Pancreas	Pancrea
32	chr18:7736200-7738600	Weak transcription	Fetal Thymus	thymus
33	chr18:7736200-7740600	Weak transcription	Fetal Heart	heart
34	chr18:7736200-7740800	Weak transcription	HepG2	liver
35	chr18:7736200-7745000	Weak transcription	A549	lung
36	chr18:7737000-7737800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:7737200-7737800	Enhancers	Gastric	stomach

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