Variant report

Variant	esv1792519
Chromosome Location	chr20:21847931-21867288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 496 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76392577	chr20:21847968-21847969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138876880	chr20:21848029-21848030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142113756	chr20:21848047-21848048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558373355	chr20:21848051-21848052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188653945	chr20:21848111-21848112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530687294	chr20:21848159-21848160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552446797	chr20:21848195-21848196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570816747	chr20:21848209-21848210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537439985	chr20:21848210-21848211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554180189	chr20:21848242-21848243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117669047	chr20:21848270-21848271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547109837	chr20:21848280-21848281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369406716	chr20:21848293-21848294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533867626	chr20:21848331-21848332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553900358	chr20:21848383-21848384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568606362	chr20:21848435-21848436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576965482	chr20:21848526-21848527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535963285	chr20:21848563-21848564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115576555	chr20:21848596-21848597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562828725	chr20:21848604-21848605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576641989	chr20:21848620-21848621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150878405	chr20:21848639-21848640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192963363	chr20:21848672-21848673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527953140	chr20:21848680-21848681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547782941	chr20:21848689-21848690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564656826	chr20:21848704-21848705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533359884	chr20:21848746-21848747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150182530	chr20:21848779-21848780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550390444	chr20:21848786-21848787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373117781	chr20:21848815-21848816	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6035967	chr20:21848827-21848828	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8121238	chr20:21848836-21848837	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs550415401	chr20:21848853-21848854	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547758701	chr20:21848867-21848868	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139380402	chr20:21848917-21848918	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149639898	chr20:21848925-21848926	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553777339	chr20:21848937-21848938	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577105598	chr20:21849018-21849019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112668644	chr20:21849040-21849041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567595485	chr20:21849138-21849139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183219312	chr20:21849163-21849164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371033078	chr20:21849253-21849254	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576577967	chr20:21849272-21849273	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569439071	chr20:21849277-21849278	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2180438	chr20:21849282-21849283	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs187080427	chr20:21849293-21849294	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191179042	chr20:21849301-21849302	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7264084	chr20:21849396-21849397	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564615184	chr20:21849401-21849402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79819662	chr20:21849462-21849463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21846000-21854000	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:21847800-21848200	Enhancers	Fetal Kidney	kidney
3	chr20:21847800-21848800	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:21847800-21849800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:21848800-21849000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:21848800-21849200	Enhancers	Colon Smooth Muscle	Colon
7	chr20:21849000-21851800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:21849200-21849400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr20:21850800-21851600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:21854000-21855000	Enhancers	Fetal Muscle Leg	muscle
11	chr20:21861800-21868600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:21863400-21864200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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