Variant report

Variant	nsv965389
Chromosome Location	chr3:105136702-105141255
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	chr3:105131124..105132764-chr3:105135409..105137743,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147255390	chr3:105136787-105136788	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78382547	chr3:105136795-105136796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375621360	chr3:105136856-105136857	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557532318	chr3:105136861-105136862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1438540	chr3:105136914-105136915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568338194	chr3:105136919-105136920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189999253	chr3:105136925-105136926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557112685	chr3:105137056-105137057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113840900	chr3:105137098-105137099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193225267	chr3:105137117-105137118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142264918	chr3:105137128-105137129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540140845	chr3:105137152-105137153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2007681	chr3:105137166-105137167	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557940988	chr3:105137173-105137174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6777410	chr3:105137251-105137252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555301152	chr3:105137278-105137279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573556488	chr3:105137293-105137294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2007688	chr3:105137301-105137302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1837227	chr3:105137303-105137304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373781785	chr3:105137348-105137349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561780618	chr3:105137371-105137372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529013274	chr3:105137396-105137397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375316040	chr3:105137439-105137440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144473553	chr3:105137546-105137547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184760198	chr3:105137601-105137602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531227710	chr3:105137640-105137641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552462447	chr3:105137664-105137665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199529963	chr3:105137669-105137670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570665770	chr3:105137680-105137681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528684748	chr3:105137733-105137734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373730899	chr3:105137742-105137743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs934856	chr3:105137766-105137767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543927262	chr3:105137797-105137798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs751554	chr3:105137843-105137844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs377268700	chr3:105137879-105137880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189454022	chr3:105137900-105137901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557312653	chr3:105137943-105137944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545456816	chr3:105138020-105138021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201509377	chr3:105138031-105138032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397990702	chr3:105138032-105138033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375963895	chr3:105138033-105138034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180756267	chr3:105138044-105138045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539695331	chr3:105138073-105138074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544780914	chr3:105138083-105138084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558103118	chr3:105138100-105138101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573039364	chr3:105138111-105138112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533958273	chr3:105138145-105138146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147877265	chr3:105138156-105138157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185248689	chr3:105138192-105138193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544017095	chr3:105138263-105138264	Weak transcription ZNF genes & repeats Enhancers	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
Renal cell carcinoma	21668985	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
small cell lung cancer	20016488	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
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105134400-105136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:105134400-105136800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:105134400-105141400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:105134400-105145400	Weak transcription	Brain Angular Gyrus	brain
5	chr3:105135000-105137200	Enhancers	HUVEC	blood vessel
6	chr3:105135000-105137600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:105135000-105141400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:105135000-105145800	Weak transcription	Brain Substantia Nigra	brain
9	chr3:105135200-105137000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:105135200-105152000	Weak transcription	NH-A	brain
11	chr3:105135400-105137400	Enhancers	Primary B cells from cord blood	blood
12	chr3:105135600-105137400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:105135600-105139400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:105135800-105136800	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:105135800-105137200	Enhancers	NHEK	skin
16	chr3:105135800-105137400	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:105135800-105137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:105135800-105137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:105136400-105136800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:105136400-105137000	Enhancers	GM12878-XiMat	blood
21	chr3:105136600-105136800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:105136600-105137000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:105136600-105137000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr3:105136600-105137200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:105136600-105137200	Enhancers	HMEC	breast
26	chr3:105136600-105137200	Enhancers	HSMM	muscle
27	chr3:105136600-105137200	Enhancers	Osteobl	bone
28	chr3:105136600-105137400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:105136600-105137400	Enhancers	A549	lung
30	chr3:105136800-105137200	Enhancers	Brain Hippocampus Middle	brain
31	chr3:105136800-105137600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:105137000-105137200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:105137000-105137200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:105137000-105137200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr3:105137200-105141000	Weak transcription	Osteobl	bone
36	chr3:105137200-105145400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:105137200-105147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:105137200-105149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:105137400-105138200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:105137400-105141400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:105137400-105143400	Weak transcription	A549	lung
42	chr3:105137400-105149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:105137400-105178600	Weak transcription	Primary B cells from cord blood	blood
44	chr3:105137600-105139400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr3:105137600-105143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:105138200-105138400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr3:105138400-105139600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:105139400-105139600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:105139400-105139800	Enhancers	Liver	Liver
50	chr3:105139400-105147400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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