Variant report

Variant	esv3386739
Chromosome Location	chr20:24707152-24711550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 235 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs138834199	chr20:24707168-24707169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565887020	chr20:24707223-24707224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534896255	chr20:24707291-24707292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6049914	chr20:24707330-24707331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371591585	chr20:24707345-24707346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112436063	chr20:24707381-24707382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368892249	chr20:24707382-24707383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577660703	chr20:24707383-24707384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552634516	chr20:24707384-24707385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543532601	chr20:24707388-24707389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556667439	chr20:24707390-24707391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199951375	chr20:24707394-24707395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2143821	chr20:24707396-24707397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145613125	chr20:24707416-24707417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2143822	chr20:24707417-24707418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181013285	chr20:24707434-24707435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185296946	chr20:24707472-24707473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191043233	chr20:24707496-24707497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183670000	chr20:24707528-24707529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7265774	chr20:24707531-24707532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147441323	chr20:24707555-24707556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8118433	chr20:24707583-24707584	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550266780	chr20:24707608-24707609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569920631	chr20:24707624-24707625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529289467	chr20:24707626-24707627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549224056	chr20:24707641-24707642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114430252	chr20:24707652-24707653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547171268	chr20:24707666-24707667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188723706	chr20:24707669-24707670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551020545	chr20:24707754-24707755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6049916	chr20:24707755-24707756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2179799	chr20:24707776-24707777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536719670	chr20:24707795-24707796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183582459	chr20:24707799-24707800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529744785	chr20:24707809-24707810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187151110	chr20:24707895-24707896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548268185	chr20:24707903-24707904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2424627	chr20:24707912-24707913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs139748307	chr20:24707962-24707963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36001789	chr20:24707981-24707982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573154828	chr20:24708050-24708051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533922330	chr20:24708053-24708054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569529944	chr20:24708075-24708076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558514775	chr20:24708116-24708117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565041722	chr20:24708123-24708124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114800229	chr20:24708140-24708141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536683863	chr20:24708190-24708191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6049917	chr20:24708235-24708236	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576798676	chr20:24708278-24708279	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543502515	chr20:24708314-24708315	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24695400-24708200	Weak transcription	Thymus	Thymus
2	chr20:24706200-24707200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:24706600-24707400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:24707000-24709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:24707400-24707600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:24708200-24709400	Strong transcription	Thymus	Thymus
7	chr20:24709400-24709600	Weak transcription	Thymus	Thymus
8	chr20:24709600-24709800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:24709600-24711000	ZNF genes & repeats	Thymus	Thymus
10	chr20:24709800-24710000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:24710000-24718000	Weak transcription	Spleen	Spleen
12	chr20:24710200-24710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:24711000-24711400	Weak transcription	Thymus	Thymus
14	chr20:24711400-24711600	Strong transcription	Thymus	Thymus

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