Variant report

Variant	esv2546617
Chromosome Location	chr18:7730234-7730235
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	rs10602344	chr18:7730234-7730235	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7723000-7733800	Weak transcription	A549	lung
2	chr18:7724000-7734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:7724600-7730400	Weak transcription	Fetal Kidney	kidney
4	chr18:7726000-7734200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:7726200-7733600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7726200-7733800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:7726200-7733800	Weak transcription	Psoas Muscle	Psoas
8	chr18:7727400-7732800	Weak transcription	Right Ventricle	heart
9	chr18:7727400-7734000	Weak transcription	Aorta	Aorta
10	chr18:7728000-7738800	Weak transcription	Thymus	Thymus
11	chr18:7728200-7731800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7728600-7730400	Weak transcription	Fetal Heart	heart
13	chr18:7728600-7730600	Enhancers	Fetal Intestine Small	intestine
14	chr18:7728600-7733800	Weak transcription	Gastric	stomach
15	chr18:7728600-7735200	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:7728600-7740000	Weak transcription	Fetal Stomach	stomach
17	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:7728800-7733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:7728800-7733600	Weak transcription	Left Ventricle	heart
20	chr18:7728800-7733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:7728800-7733800	Weak transcription	HMEC	breast
22	chr18:7728800-7734000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:7729000-7730600	Enhancers	Fetal Intestine Large	intestine
24	chr18:7729000-7733600	Weak transcription	NHEK	skin
25	chr18:7729200-7732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:7729200-7733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:7729200-7737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:7729400-7730600	Enhancers	HepG2	liver
29	chr18:7729400-7732200	Weak transcription	Pancreas	Pancrea
30	chr18:7729600-7732800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:7730000-7731000	Enhancers	Fetal Lung	lung

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