Variant report

Variant	esv3338106
Chromosome Location	chr20:24598052-24599550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573009500	chr20:24598092-24598093	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs574307156	chr20:24598121-24598122	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs545065151	chr20:24598164-24598165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs369139193	chr20:24598201-24598202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575725370	chr20:24598212-24598213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544922131	chr20:24598214-24598215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373889016	chr20:24598265-24598266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541513878	chr20:24598388-24598389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185678548	chr20:24598409-24598410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188412334	chr20:24598413-24598414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529738372	chr20:24598421-24598422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546630150	chr20:24598447-24598448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557028667	chr20:24598485-24598486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532268841	chr20:24598556-24598557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552281263	chr20:24598589-24598590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569068695	chr20:24598591-24598592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537636233	chr20:24598611-24598612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111220225	chr20:24598621-24598622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71907542	chr20:24598653-24598654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57866597	chr20:24598660-24598661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140860150	chr20:24598725-24598726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552963945	chr20:24598740-24598741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572873272	chr20:24598759-24598760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538774779	chr20:24598771-24598772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558765970	chr20:24598772-24598773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575833120	chr20:24598788-24598789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544473952	chr20:24598851-24598852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201715725	chr20:24598868-24598869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555095330	chr20:24598890-24598891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116414694	chr20:24598892-24598893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375217658	chr20:24598893-24598894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560220168	chr20:24598915-24598916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532130838	chr20:24598938-24598939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193041445	chr20:24598939-24598940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369394337	chr20:24598985-24598986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562440814	chr20:24598991-24598992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373956581	chr20:24598992-24598993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73345369	chr20:24599079-24599080	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184859545	chr20:24599094-24599095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568211912	chr20:24599113-24599114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9305139	chr20:24599169-24599170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188652548	chr20:24599178-24599179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529066779	chr20:24599179-24599180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538635902	chr20:24599185-24599186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559053217	chr20:24599186-24599187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569252834	chr20:24599245-24599246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191606968	chr20:24599248-24599249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183757788	chr20:24599341-24599342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117829800	chr20:24599377-24599378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374912106	chr20:24599383-24599384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24583200-24599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr20:24584400-24612600	Weak transcription	Aorta	Aorta
3	chr20:24591200-24609200	Weak transcription	Brain Anterior Caudate	brain
4	chr20:24592000-24599400	Weak transcription	Brain Hippocampus Middle	brain
5	chr20:24594200-24599600	Weak transcription	Brain Substantia Nigra	brain
6	chr20:24594400-24608400	Weak transcription	Spleen	Spleen
7	chr20:24594600-24599200	Weak transcription	Brain Angular Gyrus	brain
8	chr20:24594600-24599400	Weak transcription	Fetal Heart	heart
9	chr20:24594600-24599800	Weak transcription	Left Ventricle	heart
10	chr20:24594600-24600400	Weak transcription	Thymus	Thymus
11	chr20:24594600-24601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:24594800-24599800	Weak transcription	Right Atrium	heart
13	chr20:24596800-24598400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:24597200-24598200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr20:24597600-24598200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr20:24597800-24600400	Weak transcription	Fetal Thymus	thymus
17	chr20:24598000-24598200	Enhancers	Brain Cingulate Gyrus	brain
18	chr20:24598000-24601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr20:24598200-24599200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr20:24598200-24599800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr20:24598400-24599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:24599000-24599200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:24599200-24600000	Enhancers	Brain Angular Gyrus	brain
24	chr20:24599200-24600000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr20:24599400-24599800	Enhancers	Primary B cells from cord blood	blood
26	chr20:24599400-24600200	Enhancers	Brain Hippocampus Middle	brain
27	chr20:24599400-24600600	Enhancers	Primary B cells from peripheral blood	blood
28	chr20:24599400-24600600	Enhancers	Fetal Heart	heart

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