Variant report

Variant	esv3444330
Chromosome Location	chr20:25824202-25826800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6132869	chr20:25824670-25824671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531741478	chr20:25824945-25824946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548753034	chr20:25825098-25825099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565674984	chr20:25825100-25825101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558801040	chr20:25825642-25825643	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181381368	chr20:25825723-25825724	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551472598	chr20:25825786-25825787	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570681159	chr20:25825807-25825808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539669305	chr20:25825821-25825822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201659883	chr20:25825824-25825825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs4281971	chr20:25825832-25825833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370911497	chr20:25825846-25825847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556422715	chr20:25825852-25825853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs67565682	chr20:25825876-25825877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149487518	chr20:25825893-25825894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369524753	chr20:25825896-25825897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139511645	chr20:25825918-25825919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555427285	chr20:25825919-25825920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77068631	chr20:25825920-25825921	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572413891	chr20:25825923-25825924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541132002	chr20:25825926-25825927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78544361	chr20:25825936-25825937	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182364145	chr20:25825949-25825950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564633770	chr20:25825953-25825954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551490306	chr20:25825976-25825977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577896607	chr20:25825978-25825979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376060759	chr20:25825986-25825987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368512185	chr20:25825992-25825993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72490852	chr20:25826007-25826008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13045770	chr20:25826020-25826021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs529156898	chr20:25826021-25826022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77942465	chr20:25826023-25826024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75255807	chr20:25826033-25826034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542919870	chr20:25826036-25826037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200274662	chr20:25826058-25826059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73348906	chr20:25826064-25826065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535544400	chr20:25826067-25826068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79130916	chr20:25826068-25826069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561040096	chr20:25826071-25826072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113203815	chr20:25826084-25826085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528113432	chr20:25826091-25826092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9653636	chr20:25826115-25826116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571041857	chr20:25826120-25826121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72490853	chr20:25826124-25826125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372945991	chr20:25826129-25826130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533339179	chr20:25826138-25826139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75620163	chr20:25826152-25826153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370924303	chr20:25826160-25826161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550006566	chr20:25826167-25826168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373156210	chr20:25826180-25826181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25824600-25828800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr20:25825600-25825800	Active TSS	Stomach Smooth Muscle	stomach
3	chr20:25825800-25826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:25825800-25826000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:25825800-25826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:25825800-25826000	Enhancers	Aorta	Aorta
7	chr20:25825800-25826000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr20:25825800-25826000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr20:25825800-25826000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr20:25825800-25826000	Enhancers	Spleen	Spleen
11	chr20:25825800-25826000	Enhancers	HSMMtube	muscle
12	chr20:25825800-25826200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:25825800-25826200	Enhancers	Brain Angular Gyrus	brain
14	chr20:25825800-25826200	Enhancers	Brain Anterior Caudate	brain
15	chr20:25825800-25826200	Enhancers	Brain Cingulate Gyrus	brain
16	chr20:25825800-25826200	Enhancers	Brain Hippocampus Middle	brain
17	chr20:25825800-25826200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:25825800-25826200	Enhancers	Brain Substantia Nigra	brain
19	chr20:25825800-25826200	Enhancers	Psoas Muscle	Psoas
20	chr20:25825800-25826200	Enhancers	Right Ventricle	heart
21	chr20:25825800-25826200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr20:25826000-25826200	Enhancers	Esophagus	oesophagus
23	chr20:25826000-25828800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:25826000-25829000	Weak transcription	Spleen	Spleen
25	chr20:25826000-25832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr20:25826000-25833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr20:25826000-25833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:25826000-25833800	Weak transcription	Aorta	Aorta
29	chr20:25826000-25833800	Weak transcription	HSMMtube	muscle
30	chr20:25826200-25828800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr20:25826200-25829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr20:25826200-25829000	Weak transcription	Brain Angular Gyrus	brain
33	chr20:25826200-25829000	Weak transcription	Brain Hippocampus Middle	brain
34	chr20:25826200-25829000	Weak transcription	Esophagus	oesophagus
35	chr20:25826200-25832600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr20:25826200-25833600	Weak transcription	Brain Anterior Caudate	brain
37	chr20:25826200-25833600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:25826200-25833600	Weak transcription	Brain Substantia Nigra	brain
39	chr20:25826200-25833600	Weak transcription	Right Ventricle	heart

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