Variant report

Variant	esv3336823
Chromosome Location	chr18:7816296-7816517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11874030	chr18:7816313-7816314	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570435860	chr18:7816318-7816319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373980995	chr18:7816325-7816326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550735886	chr18:7816388-7816389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74902300	chr18:7816392-7816393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs179477	chr18:7816403-7816404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192725227	chr18:7816449-7816450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539266930	chr18:7816467-7816468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377568562	chr18:7816474-7816475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575081047	chr18:7816490-7816491	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7810200-7817600	Weak transcription	Ovary	ovary
2	chr18:7810200-7822400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:7810200-7824200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:7812600-7816400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:7813200-7822600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:7814600-7821400	Weak transcription	Fetal Heart	heart
7	chr18:7815400-7817000	Weak transcription	Left Ventricle	heart
8	chr18:7815400-7817800	Weak transcription	Right Ventricle	heart
9	chr18:7815400-7819400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:7815400-7820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:7815400-7820600	Weak transcription	Psoas Muscle	Psoas
12	chr18:7815400-7821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:7815400-7822600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:7815400-7843800	Weak transcription	A549	lung
15	chr18:7815600-7816800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:7815600-7817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7815600-7821600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:7815600-7822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:7815600-7824800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:7815600-7826400	Weak transcription	HepG2	liver
21	chr18:7815800-7819200	Weak transcription	Fetal Stomach	stomach
22	chr18:7816000-7817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:7816000-7817600	Weak transcription	Fetal Lung	lung
24	chr18:7816000-7819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:7816000-7822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:7816200-7818000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:7816400-7822400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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