Variant report

Variant	nsv541032
Chromosome Location	chr11:47108596-47121969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47108705..47111315-chr11:47177201..47179314,2	K562	blood:
2	chr11:47103099..47105198-chr11:47112800..47115813,3	K562	blood:

Extended variants
information (count: 365 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113292365	chr11:47108671-47108672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555587711	chr11:47108697-47108698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572312749	chr11:47108739-47108740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541278348	chr11:47108756-47108757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192512323	chr11:47108763-47108764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577529043	chr11:47108765-47108766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543069957	chr11:47108810-47108811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6485731	chr11:47108812-47108813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375744365	chr11:47108855-47108856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542352975	chr11:47108973-47108974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559516867	chr11:47108984-47108985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183151950	chr11:47109031-47109032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187437092	chr11:47109037-47109038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4498951	chr11:47109060-47109061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530907781	chr11:47109108-47109109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193083808	chr11:47109121-47109122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34759982	chr11:47109134-47109135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550679813	chr11:47109142-47109143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184899154	chr11:47109146-47109147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371131388	chr11:47109177-47109178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536736852	chr11:47109236-47109237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116868342	chr11:47109238-47109239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567686173	chr11:47109257-47109258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532021699	chr11:47109268-47109269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150232139	chr11:47109269-47109270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189797881	chr11:47109278-47109279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58066642	chr11:47109288-47109289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12420830	chr11:47109308-47109309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76061931	chr11:47109330-47109331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75050033	chr11:47109331-47109332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79172348	chr11:47109332-47109333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78323155	chr11:47109338-47109339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11039083	chr11:47109343-47109344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138330970	chr11:47109368-47109369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4269876	chr11:47109463-47109464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149639773	chr11:47109498-47109499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4319472	chr11:47109514-47109515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs111737981	chr11:47109603-47109604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528628351	chr11:47109633-47109634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374642652	chr11:47109721-47109722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139019436	chr11:47109735-47109736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565504942	chr11:47109749-47109750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368093260	chr11:47109752-47109753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531098262	chr11:47109805-47109806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551299117	chr11:47109808-47109809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143141048	chr11:47109824-47109825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111990885	chr11:47109833-47109834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547079320	chr11:47109834-47109835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566990995	chr11:47109873-47109874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538859458	chr11:47109921-47109922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47077600-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47089400-47120800	Weak transcription	Hela-S3	cervix
3	chr11:47094000-47116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:47094000-47125200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:47100800-47121000	Weak transcription	HSMMtube	muscle
6	chr11:47101400-47109000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:47106200-47109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:47106200-47109200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:47106200-47109400	Weak transcription	Osteobl	bone
10	chr11:47106200-47121000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:47107800-47110000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:47108200-47108600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47108600-47110000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:47109000-47109400	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:47109200-47109600	Enhancers	Fetal Thymus	thymus
16	chr11:47109200-47110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47109200-47110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47109400-47109800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:47109400-47109800	Enhancers	K562	blood
20	chr11:47109800-47110800	Weak transcription	K562	blood
21	chr11:47110000-47115800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:47110000-47126000	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47110600-47116200	Weak transcription	Fetal Lung	lung
24	chr11:47111000-47111200	Enhancers	K562	blood
25	chr11:47113000-47113400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr11:47113200-47113400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47113400-47114000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:47113400-47120000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:47115000-47115400	Enhancers	Pancreas	Pancrea
30	chr11:47115400-47122000	Weak transcription	Pancreas	Pancrea
31	chr11:47115800-47116200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:47116200-47117400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47116200-47118200	Enhancers	Fetal Lung	lung
34	chr11:47116400-47117000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:47116400-47118200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:47116400-47118400	Enhancers	HepG2	liver
37	chr11:47116600-47117400	Enhancers	Fetal Intestine Small	intestine
38	chr11:47116600-47118200	Enhancers	Brain Anterior Caudate	brain
39	chr11:47116800-47117400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47117000-47120400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:47117200-47117400	Enhancers	Brain Hippocampus Middle	brain
42	chr11:47117400-47118800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:47117400-47120800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:47117400-47125800	Weak transcription	Fetal Intestine Small	intestine
45	chr11:47117800-47118200	Enhancers	Ovary	ovary
46	chr11:47118200-47120400	Weak transcription	Fetal Lung	lung
47	chr11:47118200-47120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47118200-47121200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:47118400-47120000	Weak transcription	HepG2	liver
50	chr11:47118800-47123000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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