Variant report

Variant	nsv963486
Chromosome Location	chr3:111047149-111055574
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	chr3:111042529..111044033-chr3:111050844..111053535,2	MCF-7	breast:

Extended variants
information (count: 309 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144895980	chr3:111047149-111047150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149045748	chr3:111047158-111047159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565237131	chr3:111047163-111047164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2950970	chr3:111047225-111047226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191728462	chr3:111047282-111047283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561111644	chr3:111047292-111047293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529992433	chr3:111047319-111047320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550116133	chr3:111047331-111047332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569644682	chr3:111047339-111047340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532016589	chr3:111047350-111047351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551163628	chr3:111047439-111047440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181287976	chr3:111047532-111047533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565629401	chr3:111047583-111047584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571351287	chr3:111047591-111047592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186531013	chr3:111047594-111047595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12490273	chr3:111047627-111047628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573087343	chr3:111047695-111047696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190851123	chr3:111047754-111047755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73852232	chr3:111047800-111047801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138751334	chr3:111047836-111047837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575982108	chr3:111047838-111047839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545082945	chr3:111047853-111047854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141720254	chr3:111047909-111047910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2971363	chr3:111048079-111048080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563918459	chr3:111048080-111048081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531991059	chr3:111048088-111048089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34257885	chr3:111048127-111048128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369577780	chr3:111048136-111048137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147091516	chr3:111048158-111048159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576128209	chr3:111048168-111048169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543696432	chr3:111048178-111048179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182251721	chr3:111048209-111048210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138514269	chr3:111048219-111048220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74715257	chr3:111048225-111048226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187633855	chr3:111048260-111048261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190806795	chr3:111048273-111048274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571098633	chr3:111048285-111048286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376082222	chr3:111048296-111048297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183402577	chr3:111048297-111048298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567491328	chr3:111048316-111048317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188612917	chr3:111048322-111048323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7622384	chr3:111048334-111048335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570240782	chr3:111048344-111048345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7634000	chr3:111048350-111048351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs572436108	chr3:111048373-111048374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535095591	chr3:111048378-111048379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540230539	chr3:111048395-111048396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2950969	chr3:111048466-111048467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79843541	chr3:111048503-111048504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76652068	chr3:111048512-111048513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111041600-111047200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:111043800-111052200	Weak transcription	HMEC	breast
3	chr3:111045200-111050800	Weak transcription	Fetal Thymus	thymus
4	chr3:111045400-111051600	Weak transcription	HSMM	muscle
5	chr3:111045800-111054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:111046800-111047600	Enhancers	Dnd41	blood
7	chr3:111047200-111047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:111047400-111048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:111047600-111050800	Weak transcription	Dnd41	blood
10	chr3:111048200-111048400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:111049800-111051600	Enhancers	HepG2	liver
12	chr3:111050800-111051200	Enhancers	Fetal Thymus	thymus
13	chr3:111050800-111052800	Enhancers	Dnd41	blood
14	chr3:111051200-111051400	Weak transcription	Fetal Thymus	thymus
15	chr3:111051200-111052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:111051400-111052000	Enhancers	Fetal Thymus	thymus
17	chr3:111051400-111052200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:111051400-111053200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:111051400-111053200	Enhancers	HSMMtube	muscle
20	chr3:111051600-111052000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:111051600-111052000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:111051600-111052000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:111051600-111052000	Enhancers	Fetal Muscle Leg	muscle
24	chr3:111051600-111053200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:111051600-111053200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:111051600-111053200	Enhancers	HSMM	muscle
27	chr3:111051800-111052000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:111051800-111052000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:111051800-111052000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:111051800-111052000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:111051800-111052000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:111051800-111052000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:111051800-111053200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:111052000-111052200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:111052000-111053800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:111052000-111054200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:111052000-111054400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:111052000-111054400	Weak transcription	Fetal Thymus	thymus
39	chr3:111052000-111054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:111052000-111054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:111052200-111052600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:111052200-111053000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:111052200-111053200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:111052200-111053200	Enhancers	HMEC	breast
45	chr3:111052200-111053200	Enhancers	NHEK	skin
46	chr3:111052400-111053000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:111052400-111053000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:111052400-111053000	Enhancers	NH-A	brain
49	chr3:111052600-111052800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:111052600-111052800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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