Variant report

Variant	esv20339
Chromosome Location	chr11:47057887-47063447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs531275726	chr11:47058084-47058085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547857020	chr11:47058210-47058211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373286201	chr11:47058214-47058215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190746049	chr11:47058250-47058251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551750993	chr11:47058333-47058334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376394340	chr11:47058433-47058434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112048849	chr11:47058450-47058451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547974369	chr11:47058452-47058453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs142588082	chr11:47058454-47058455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540154659	chr11:47058484-47058485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11500471	chr11:47058499-47058500	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572916401	chr11:47058589-47058590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535886828	chr11:47058600-47058601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555570602	chr11:47058627-47058628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572547623	chr11:47058675-47058676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12276575	chr11:47058681-47058682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184604775	chr11:47058748-47058749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189342107	chr11:47058750-47058751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180706495	chr11:47058752-47058753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201140251	chr11:47058757-47058758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149013545	chr11:47058758-47058759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540006487	chr11:47058841-47058842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183026948	chr11:47058876-47058877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202239221	chr11:47058943-47058944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375717908	chr11:47058944-47058945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11530162	chr11:47058946-47058947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11500472	chr11:47058947-47058948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545711222	chr11:47058949-47058950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12225571	chr11:47058981-47058982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562468572	chr11:47059109-47059110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531190230	chr11:47059110-47059111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61896113	chr11:47059114-47059115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541859512	chr11:47059148-47059149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11525389	chr11:47059183-47059184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530206932	chr11:47059238-47059239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11530163	chr11:47059254-47059255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12223072	chr11:47059275-47059276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28495757	chr11:47059276-47059277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575737803	chr11:47059283-47059284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28734104	chr11:47059288-47059289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12225908	chr11:47059303-47059304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11525390	chr11:47059363-47059364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11525391	chr11:47059371-47059372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527394218	chr11:47059486-47059487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547644628	chr11:47059487-47059488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571078784	chr11:47059512-47059513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376153766	chr11:47059523-47059524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550482160	chr11:47059528-47059529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111348720	chr11:47059537-47059538	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs374610963	chr11:47059592-47059593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47048800-47058000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
4	chr11:47055200-47062000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:47055400-47058200	Weak transcription	NHDF-Ad	bronchial
6	chr11:47055400-47058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:47055400-47077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:47055600-47077800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:47056200-47058400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47056400-47073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:47056600-47073800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:47057000-47058600	Weak transcription	K562	blood
13	chr11:47057200-47074200	Weak transcription	Hela-S3	cervix
14	chr11:47058400-47058600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr11:47058600-47058800	Enhancers	K562	blood
16	chr11:47058600-47074800	Weak transcription	Fetal Intestine Small	intestine
17	chr11:47061400-47082800	Weak transcription	Brain Angular Gyrus	brain
18	chr11:47062000-47062200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:47063000-47063200	Weak transcription	Pancreas	Pancrea
20	chr11:47063200-47063400	Enhancers	Pancreas	Pancrea

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