Variant report

Variant	esv2573409
Chromosome Location	chr20:21849388-21850930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7264084	chr20:21849396-21849397	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564615184	chr20:21849401-21849402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79819662	chr20:21849462-21849463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62217542	chr20:21849475-21849476	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183641175	chr20:21849483-21849484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114910469	chr20:21849549-21849550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188302639	chr20:21849550-21849551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547893427	chr20:21849555-21849556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567860286	chr20:21849558-21849559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533543642	chr20:21849559-21849560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547400256	chr20:21849567-21849568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77653131	chr20:21849570-21849571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570632007	chr20:21849575-21849576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373230702	chr20:21849651-21849652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539741339	chr20:21849662-21849663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193248574	chr20:21849755-21849756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569874653	chr20:21849762-21849763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535903127	chr20:21849816-21849817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78963999	chr20:21849859-21849860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576428668	chr20:21850049-21850050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17751374	chr20:21850189-21850190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144406470	chr20:21850243-21850244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370183218	chr20:21850270-21850271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185655885	chr20:21850271-21850272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6082533	chr20:21850273-21850274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs578169386	chr20:21850329-21850330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190174662	chr20:21850340-21850341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181772000	chr20:21850375-21850376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539515947	chr20:21850395-21850396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563291043	chr20:21850400-21850401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185592657	chr20:21850465-21850466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542852081	chr20:21850504-21850505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74941006	chr20:21850522-21850523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180704319	chr20:21850627-21850628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547049454	chr20:21850649-21850650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570442243	chr20:21850690-21850691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533036315	chr20:21850709-21850710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542065749	chr20:21850725-21850726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530740085	chr20:21850747-21850748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12479719	chr20:21850786-21850787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139437887	chr20:21850799-21850800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535635917	chr20:21850844-21850845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs997078	chr20:21850850-21850851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56057392	chr20:21850885-21850886	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21846000-21854000	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:21847800-21849800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:21849000-21851800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:21849200-21849400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr20:21850800-21851600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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