Variant report

Variant	esv3374496
Chromosome Location	chr20:25097152-25101450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527679354	chr20:25097183-25097184	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377075182	chr20:25097192-25097193	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187098120	chr20:25097235-25097236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192007900	chr20:25097247-25097248	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539667145	chr20:25097255-25097256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs549929361	chr20:25097257-25097258	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs569900109	chr20:25097304-25097305	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs538062777	chr20:25097405-25097406	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs535563777	chr20:25097408-25097409	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs555166161	chr20:25097411-25097412	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs572047933	chr20:25097466-25097467	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs370901171	chr20:25097477-25097478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs534282462	chr20:25097481-25097482	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs182930541	chr20:25097520-25097521	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs577977005	chr20:25097528-25097529	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs578070706	chr20:25097545-25097546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs187220532	chr20:25097564-25097565	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs563507691	chr20:25097604-25097605	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573878236	chr20:25097632-25097633	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191726517	chr20:25097693-25097694	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545061868	chr20:25097717-25097718	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562003692	chr20:25097723-25097724	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527692090	chr20:25097763-25097764	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114311056	chr20:25097771-25097772	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6138492	chr20:25097792-25097793	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182506652	chr20:25097806-25097807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73333137	chr20:25097807-25097808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569960711	chr20:25097873-25097874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs13045481	chr20:25097876-25097877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370512737	chr20:25097889-25097890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6050337	chr20:25097926-25097927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551159954	chr20:25097938-25097939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs367960556	chr20:25097939-25097940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149541990	chr20:25097942-25097943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557748981	chr20:25097974-25097975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116044247	chr20:25097991-25097992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6132801	chr20:25098054-25098055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs6138493	chr20:25098055-25098056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115606252	chr20:25098060-25098061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573792419	chr20:25098061-25098062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78668990	chr20:25098072-25098073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555851996	chr20:25098073-25098074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188062031	chr20:25098074-25098075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143160428	chr20:25098150-25098151	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368685813	chr20:25098151-25098152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544022048	chr20:25098193-25098194	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4813549	chr20:25098235-25098236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542120405	chr20:25098265-25098266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543745507	chr20:25098269-25098270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533088696	chr20:25098357-25098358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25095400-25098200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:25095400-25099000	Weak transcription	Gastric	stomach
3	chr20:25095600-25097600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:25095600-25098000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:25095800-25097200	Enhancers	Liver	Liver
6	chr20:25095800-25097200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr20:25095800-25097200	Enhancers	Stomach Smooth Muscle	stomach
8	chr20:25095800-25097400	Enhancers	Colon Smooth Muscle	Colon
9	chr20:25095800-25097400	Enhancers	Fetal Brain Female	brain
10	chr20:25095800-25099000	Enhancers	Fetal Brain Male	brain
11	chr20:25095800-25099200	Enhancers	Fetal Muscle Leg	muscle
12	chr20:25096000-25097600	Enhancers	Aorta	Aorta
13	chr20:25096000-25098200	Enhancers	Brain Hippocampus Middle	brain
14	chr20:25096000-25098200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr20:25096000-25099000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:25096000-25099000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr20:25096200-25098000	Enhancers	Brain Cingulate Gyrus	brain
18	chr20:25096400-25097400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr20:25096400-25097600	Enhancers	Brain Angular Gyrus	brain
20	chr20:25096400-25097600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr20:25096600-25097200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:25096600-25097200	Enhancers	Pancreas	Pancrea
23	chr20:25096600-25097200	Enhancers	Right Atrium	heart
24	chr20:25096800-25097200	Enhancers	Left Ventricle	heart
25	chr20:25096800-25097400	Bivalent Enhancer	HepG2	liver
26	chr20:25096800-25097600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr20:25096800-25097600	Enhancers	Right Ventricle	heart
28	chr20:25096800-25098000	Enhancers	Psoas Muscle	Psoas
29	chr20:25096800-25098200	Enhancers	Brain Substantia Nigra	brain
30	chr20:25096800-25098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:25097000-25097200	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr20:25097000-25097400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr20:25097000-25097600	Enhancers	Brain Anterior Caudate	brain
34	chr20:25097000-25097600	Enhancers	Brain Germinal Matrix	brain
35	chr20:25097000-25097600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr20:25097000-25097600	Enhancers	Thymus	Thymus
37	chr20:25097000-25099600	Enhancers	A549	lung
38	chr20:25097200-25097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:25097200-25097800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr20:25097200-25098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:25097200-25099000	Weak transcription	Pancreas	Pancrea
42	chr20:25097200-25120000	Weak transcription	Right Atrium	heart
43	chr20:25097400-25097600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr20:25097400-25097600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr20:25097400-25097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:25097400-25098200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr20:25097600-25098000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr20:25097600-25099000	Enhancers	Fetal Muscle Trunk	muscle
49	chr20:25097800-25098000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr20:25097800-25098000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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