Variant report

Variant	esv3396140
Chromosome Location	chr20:11474702-11476750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374445196	chr20:11474835-11474836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570417797	chr20:11474983-11474984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562318014	chr20:11474987-11474988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531420603	chr20:11474989-11474990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545272824	chr20:11474999-11475000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147944330	chr20:11475024-11475025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566694025	chr20:11475073-11475074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546718535	chr20:11475079-11475080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537985802	chr20:11475269-11475270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80081550	chr20:11475276-11475277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193143769	chr20:11475286-11475287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556201953	chr20:11475290-11475291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569457772	chr20:11475291-11475292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538467070	chr20:11475309-11475310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529185685	chr20:11475342-11475343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571885271	chr20:11475368-11475369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71334463	chr20:11475376-11475377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386393309	chr20:11475381-11475382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544203044	chr20:11475397-11475398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373083069	chr20:11475448-11475449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141760039	chr20:11475453-11475454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147079214	chr20:11475556-11475557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573325585	chr20:11475653-11475654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555571244	chr20:11475664-11475665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533145903	chr20:11475674-11475675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370695412	chr20:11475675-11475676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11696986	chr20:11475697-11475698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555877034	chr20:11475731-11475732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs977277	chr20:11475808-11475809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368273053	chr20:11476041-11476042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544921793	chr20:11476046-11476047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565177737	chr20:11476082-11476083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574783288	chr20:11476104-11476105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6109003	chr20:11476238-11476239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541288482	chr20:11476268-11476269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6104759	chr20:11476278-11476279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572207546	chr20:11476298-11476299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369965508	chr20:11476311-11476312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs978693	chr20:11476322-11476323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529340280	chr20:11476323-11476324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532537877	chr20:11476328-11476329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540552795	chr20:11476331-11476332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4476412	chr20:11476343-11476344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140765114	chr20:11476348-11476349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs978692	chr20:11476349-11476350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551639878	chr20:11476378-11476379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6109004	chr20:11476386-11476387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183505378	chr20:11476464-11476465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6104760	chr20:11476533-11476534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150096286	chr20:11476544-11476545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11471600-11475000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr20:11471600-11475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:11472400-11478200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:11472400-11479600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:11472600-11475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:11473800-11476600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr20:11474000-11479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:11474000-11479600	Weak transcription	HMEC	breast
9	chr20:11474000-11479600	Weak transcription	NHEK	skin
10	chr20:11475000-11475200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:11476000-11477400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:11476400-11481000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:11476600-11476800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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