Variant report

Variant	nsv558748
Chromosome Location	chr12:43151728-43152847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:43144917..43147362-chr12:43148881..43152996,3	MCF-7	breast:
2	chr12:43149824..43152359-chr12:43167562..43169768,2	MCF-7	breast:
3	chr12:43128007..43129879-chr12:43150187..43151770,2	MCF-7	breast:
4	chr12:42983007..42984827-chr12:43150919..43152450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2897590	chr12:43151728-43151729	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543148066	chr12:43151734-43151735	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138757466	chr12:43151736-43151737	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372980656	chr12:43151739-43151740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540844188	chr12:43151767-43151768	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111832948	chr12:43151769-43151770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559551187	chr12:43151794-43151795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550077533	chr12:43151801-43151802	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533121109	chr12:43151813-43151814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546169478	chr12:43151863-43151864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564357479	chr12:43151867-43151868	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375982262	chr12:43151925-43151926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11370703	chr12:43151934-43151935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397730077	chr12:43151935-43151936	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550267298	chr12:43151961-43151962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553670194	chr12:43151963-43151964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568582065	chr12:43152012-43152013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138078942	chr12:43152027-43152028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186134421	chr12:43152033-43152034	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190038719	chr12:43152037-43152038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539788189	chr12:43152060-43152061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141791498	chr12:43152095-43152096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569578939	chr12:43152180-43152181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369980900	chr12:43152203-43152204	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373864652	chr12:43152224-43152225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574348727	chr12:43152259-43152260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11181678	chr12:43152271-43152272	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs112031665	chr12:43152280-43152281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11181679	chr12:43152325-43152326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11181680	chr12:43152364-43152365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs545938300	chr12:43152450-43152451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10506218	chr12:43152484-43152485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181632026	chr12:43152558-43152559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552579997	chr12:43152578-43152579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73285945	chr12:43152582-43152583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150576437	chr12:43152630-43152631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386762543	chr12:43152632-43152633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372343185	chr12:43152633-43152634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562119789	chr12:43152663-43152664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74837313	chr12:43152701-43152702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547963383	chr12:43152713-43152714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74999151	chr12:43152740-43152741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533655622	chr12:43152748-43152749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551759007	chr12:43152761-43152762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138642362	chr12:43152773-43152774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149361470	chr12:43152775-43152776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144670337	chr12:43152800-43152801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186358970	chr12:43152836-43152837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs870972	chr12:43152847-43152848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43140800-43152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:43149600-43152200	Enhancers	HSMM	muscle
3	chr12:43149600-43153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:43149600-43154800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:43149600-43156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:43149800-43153200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:43149800-43153600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:43149800-43154000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:43149800-43155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:43149800-43156600	Enhancers	HMEC	breast
11	chr12:43150000-43151800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:43150000-43151800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:43150000-43153800	Enhancers	NHEK	skin
14	chr12:43150200-43152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:43150200-43152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:43150200-43152000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:43150200-43152200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:43150200-43152200	Enhancers	Osteobl	bone
19	chr12:43150200-43154000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:43150200-43154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:43150200-43154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:43150200-43155200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:43150400-43151800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:43150400-43151800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:43150400-43154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:43150600-43151800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:43150600-43151800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:43150600-43152200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:43150600-43152200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:43150600-43152800	Enhancers	HSMMtube	muscle
31	chr12:43150800-43151800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:43150800-43152400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:43150800-43154800	Enhancers	Fetal Lung	lung
34	chr12:43151000-43152000	Enhancers	Fetal Kidney	kidney
35	chr12:43151000-43153400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:43151000-43153400	Enhancers	Brain Germinal Matrix	brain
37	chr12:43151200-43151800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:43151200-43151800	Flanking Active TSS	NH-A	brain
39	chr12:43151200-43155400	Weak transcription	GM12878-XiMat	blood
40	chr12:43151400-43153000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:43151600-43151800	Enhancers	A549	lung
42	chr12:43151600-43152200	Enhancers	Fetal Muscle Leg	muscle
43	chr12:43151600-43152600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:43151600-43152600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:43151600-43152800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:43151600-43153000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:43151600-43153600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:43151600-43153600	Weak transcription	Hela-S3	cervix
49	chr12:43151800-43152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:43151800-43152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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