Variant report

Variant	esv3366957
Chromosome Location	chr20:40722937-40723278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79930250	chr20:40722998-40722999	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397805035	chr20:40723003-40723004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3091480	chr20:40723042-40723043	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367976434	chr20:40723071-40723072	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73129170	chr20:40723100-40723101	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150140781	chr20:40723121-40723122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571413231	chr20:40723124-40723125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6016680	chr20:40723130-40723131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532145864	chr20:40723137-40723138	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552300897	chr20:40723144-40723145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190589343	chr20:40723175-40723176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535802219	chr20:40723198-40723199	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6029963	chr20:40723249-40723250	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182827732	chr20:40723253-40723254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568682636	chr20:40723269-40723270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6029964	chr20:40723272-40723273	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6029965	chr20:40723276-40723277	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40712200-40725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40714600-40730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:40722400-40726000	Weak transcription	Brain Germinal Matrix	brain
5	chr20:40722400-40728400	Weak transcription	Pancreas	Pancrea
6	chr20:40722600-40723000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr20:40723000-40728600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr20:40723200-40741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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