Variant report

Variant	esv3452128
Chromosome Location	chr20:41724810-41725017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79185303	chr20:41724815-41724816	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73265847	chr20:41724816-41724817	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111597994	chr20:41724825-41724826	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529994373	chr20:41724835-41724836	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200602712	chr20:41724855-41724856	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149739957	chr20:41724887-41724888	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544651519	chr20:41724983-41724984	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73265850	chr20:41724990-41724991	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Cervical cancer	16585170	CNVD
Developmental delay	21373258	CNVD
Breast cancer	21806811	CNVD
Mental retardation	17901693	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Barrett''s esophagus	18559552	CNVD
Renal cell carcinoma	18765545	CNVD
Lung cancer	16740712	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41720800-41725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:41724200-41727800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:41724400-41725800	Enhancers	Fetal Brain Female	brain
4	chr20:41724400-41726600	Enhancers	Fetal Stomach	stomach
5	chr20:41724600-41725000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:41724600-41725000	Enhancers	Fetal Kidney	kidney
7	chr20:41724600-41725800	Enhancers	Brain Germinal Matrix	brain
8	chr20:41724600-41725800	Enhancers	Fetal Brain Male	brain
9	chr20:41724600-41726400	Enhancers	Fetal Muscle Leg	muscle
10	chr20:41724600-41726600	Enhancers	Brain Hippocampus Middle	brain
11	chr20:41724600-41727600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:41724800-41725000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr20:41724800-41725400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr20:41724800-41725800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:41724800-41725800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr20:41724800-41725800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:41724800-41725800	Enhancers	Brain Anterior Caudate	brain
18	chr20:41724800-41725800	Enhancers	Fetal Lung	lung
19	chr20:41724800-41726000	Enhancers	Brain Angular Gyrus	brain
20	chr20:41724800-41726000	Enhancers	Brain Cingulate Gyrus	brain
21	chr20:41724800-41726200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr20:41724800-41726600	Enhancers	Brain Substantia Nigra	brain
23	chr20:41724800-41726600	Enhancers	Colon Smooth Muscle	Colon
24	chr20:41725000-41725400	Enhancers	Fetal Muscle Trunk	muscle
25	chr20:41725000-41725600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr20:41725000-41725600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:41725000-41725600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr20:41725000-41725800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:41725000-41726000	Enhancers	Rectal Smooth Muscle	rectum
30	chr20:41725000-41726400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr20:41725000-41726400	Enhancers	Placenta	Placenta
32	chr20:41725000-41730600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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