Variant report

Variant	nsv828705
Chromosome Location	chr20:24705746-24710623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:234 , 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	rs548623207	chr20:24705766-24705767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536333576	chr20:24705804-24705805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554729050	chr20:24705806-24705807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534335428	chr20:24705807-24705808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373230249	chr20:24705809-24705810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376944889	chr20:24705811-24705812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183580282	chr20:24705812-24705813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577326802	chr20:24705817-24705818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189492310	chr20:24705819-24705820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182101738	chr20:24705862-24705863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576542293	chr20:24705907-24705908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542050722	chr20:24705914-24705915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534480570	chr20:24705931-24705932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562356654	chr20:24705933-24705934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11087477	chr20:24705949-24705950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138474676	chr20:24705952-24705953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148833508	chr20:24705989-24705990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540243744	chr20:24706020-24706021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185310535	chr20:24706037-24706038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550000887	chr20:24706046-24706047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563443872	chr20:24706200-24706201	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs143434682	chr20:24706235-24706236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs548902246	chr20:24706242-24706243	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs565910355	chr20:24706253-24706254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs534251681	chr20:24706272-24706273	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs547933973	chr20:24706289-24706290	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs36004132	chr20:24706312-24706313	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11697041	chr20:24706323-24706324	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs556564126	chr20:24706371-24706372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs563527269	chr20:24706382-24706383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs147973738	chr20:24706412-24706413	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs536177441	chr20:24706414-24706415	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs57111044	chr20:24706466-24706467	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572319262	chr20:24706472-24706473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs6049913	chr20:24706484-24706485	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575619920	chr20:24706500-24706501	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs562686588	chr20:24706511-24706512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs565890717	chr20:24706554-24706555	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577175419	chr20:24706583-24706584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs543040984	chr20:24706682-24706683	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs78178941	chr20:24706711-24706712	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs529153265	chr20:24706841-24706842	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs542682397	chr20:24706868-24706869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs147156414	chr20:24706881-24706882	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs75054086	chr20:24706882-24706883	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs369944189	chr20:24706917-24706918	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs373545796	chr20:24706926-24706927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs528299079	chr20:24706992-24706993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs76792315	chr20:24707011-24707012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181469066	chr20:24707052-24707053	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24695400-24708200	Weak transcription	Thymus	Thymus
2	chr20:24702800-24706200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:24706000-24706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:24706200-24706600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:24706200-24707000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr20:24706200-24707000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:24706200-24707000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:24706200-24707000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:24706200-24707000	Bivalent Enhancer	HepG2	liver
10	chr20:24706200-24707200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:24706600-24707000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:24706600-24707400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:24707000-24709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:24707400-24707600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:24708200-24709400	Strong transcription	Thymus	Thymus
16	chr20:24709400-24709600	Weak transcription	Thymus	Thymus
17	chr20:24709600-24709800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:24709600-24711000	ZNF genes & repeats	Thymus	Thymus
19	chr20:24709800-24710000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:24710000-24718000	Weak transcription	Spleen	Spleen
21	chr20:24710200-24710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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