Variant report

Variant	nsv828707
Chromosome Location	chr20:24708186-24710967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536683863	chr20:24708190-24708191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6049917	chr20:24708235-24708236	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576798676	chr20:24708278-24708279	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543502515	chr20:24708314-24708315	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6049918	chr20:24708335-24708336	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191650997	chr20:24708338-24708339	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551776307	chr20:24708350-24708351	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528702752	chr20:24708353-24708354	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559348262	chr20:24708368-24708369	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62216862	chr20:24708388-24708389	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528744048	chr20:24708419-24708420	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551673294	chr20:24708431-24708432	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577358436	chr20:24708432-24708433	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183797877	chr20:24708453-24708454	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149990102	chr20:24708537-24708538	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6076258	chr20:24708541-24708542	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6083598	chr20:24708571-24708572	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534613229	chr20:24708590-24708591	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550934785	chr20:24708591-24708592	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567352598	chr20:24708592-24708593	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186479366	chr20:24708624-24708625	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552991194	chr20:24708626-24708627	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11698382	chr20:24708653-24708654	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs193265195	chr20:24708667-24708668	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113118526	chr20:24708677-24708678	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535552601	chr20:24708685-24708686	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144244080	chr20:24708698-24708699	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544384597	chr20:24708723-24708724	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6083599	chr20:24708734-24708735	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560970528	chr20:24708753-24708754	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368377399	chr20:24708761-24708762	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573773454	chr20:24708769-24708770	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185433895	chr20:24708797-24708798	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559287865	chr20:24708815-24708816	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528470221	chr20:24708820-24708821	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11698370	chr20:24708823-24708824	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2424628	chr20:24708844-24708845	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73905446	chr20:24708871-24708872	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190536238	chr20:24708898-24708899	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567800096	chr20:24708935-24708936	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75949902	chr20:24708939-24708940	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148708097	chr20:24708953-24708954	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112822384	chr20:24708958-24708959	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77760198	chr20:24708959-24708960	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78806082	chr20:24708971-24708972	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11906806	chr20:24708972-24708973	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11907200	chr20:24709021-24709022	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115500561	chr20:24709066-24709067	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548234906	chr20:24709091-24709092	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6076259	chr20:24709107-24709108	Enhancers Strong transcription	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24695400-24708200	Weak transcription	Thymus	Thymus
2	chr20:24707000-24709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:24708200-24709400	Strong transcription	Thymus	Thymus
4	chr20:24709400-24709600	Weak transcription	Thymus	Thymus
5	chr20:24709600-24709800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:24709600-24711000	ZNF genes & repeats	Thymus	Thymus
7	chr20:24709800-24710000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:24710000-24718000	Weak transcription	Spleen	Spleen
9	chr20:24710200-24710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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