Variant report

Variant	nsv826239
Chromosome Location	chr12:10244497-10249249
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	chr12:10248204..10251036-chr12:10254144..10255657,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs546909274	chr12:10244499-10244500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372998135	chr12:10244514-10244515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181227908	chr12:10244558-10244559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535390258	chr12:10244566-10244567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185496011	chr12:10244600-10244601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568775698	chr12:10244606-10244607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11309707	chr12:10244619-10244620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189759540	chr12:10244639-10244640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7972187	chr12:10244654-10244655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112964032	chr12:10244695-10244696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7969125	chr12:10244716-10244717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149823488	chr12:10244776-10244777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7953886	chr12:10244822-10244823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143972433	chr12:10244824-10244825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573452956	chr12:10244830-10244831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112672762	chr12:10244908-10244909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182529385	chr12:10244970-10244971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575580308	chr12:10244988-10244989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140410057	chr12:10245118-10245119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11347002	chr12:10245159-10245160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114093471	chr12:10245209-10245210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533476782	chr12:10245211-10245212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529481470	chr12:10245217-10245218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11444183	chr12:10245237-10245238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60214823	chr12:10245241-10245242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560112585	chr12:10245324-10245325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187054397	chr12:10245354-10245355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144254977	chr12:10245374-10245375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58099478	chr12:10245448-10245449	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537486835	chr12:10245512-10245513	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561271269	chr12:10245518-10245519	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191971624	chr12:10245519-10245520	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531041573	chr12:10245534-10245535	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570961635	chr12:10245538-10245539	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533660847	chr12:10245567-10245568	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545309143	chr12:10245616-10245617	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373157405	chr12:10245629-10245630	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111440787	chr12:10245646-10245647	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10505753	chr12:10245720-10245721	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs368227359	chr12:10245802-10245803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183244665	chr12:10245813-10245814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188309061	chr12:10245834-10245835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74063503	chr12:10245845-10245846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575587329	chr12:10245873-10245874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544143251	chr12:10245952-10245953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182527080	chr12:10245953-10245954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376433417	chr12:10245970-10245971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528025570	chr12:10245972-10245973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3052137	chr12:10245973-10245974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186764232	chr12:10246076-10246077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22543975	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10222800-10248400	Weak transcription	Psoas Muscle	Psoas
2	chr12:10228600-10247200	Weak transcription	HUVEC	blood vessel
3	chr12:10237000-10244800	Weak transcription	Left Ventricle	heart
4	chr12:10237000-10246200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:10242800-10253800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:10243000-10245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:10243000-10246000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:10243200-10246200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:10243200-10247200	Weak transcription	Right Atrium	heart
10	chr12:10243800-10245600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:10244400-10246000	Weak transcription	GM12878-XiMat	blood
12	chr12:10244800-10245200	Enhancers	Left Ventricle	heart
13	chr12:10245200-10248800	Weak transcription	Left Ventricle	heart
14	chr12:10245400-10245800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:10245400-10245800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:10245600-10247400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:10245800-10251800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:10246000-10246600	Enhancers	GM12878-XiMat	blood
19	chr12:10246000-10247000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:10246200-10247000	Enhancers	Adipose Nuclei	Adipose
21	chr12:10246200-10247800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:10246200-10250000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:10246600-10247200	Weak transcription	GM12878-XiMat	blood
24	chr12:10247000-10247400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:10247000-10248200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:10247200-10247400	Enhancers	GM12878-XiMat	blood
27	chr12:10247200-10247600	Enhancers	Primary B cells from cord blood	blood
28	chr12:10247200-10247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:10247200-10247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:10247200-10247800	Active TSS	Right Atrium	heart
31	chr12:10247200-10249400	Enhancers	HUVEC	blood vessel
32	chr12:10247400-10247600	Active TSS	Adipose Nuclei	Adipose
33	chr12:10247400-10247800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:10247600-10247800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:10247800-10248600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:10247800-10249000	Weak transcription	Right Atrium	heart
37	chr12:10247800-10250000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:10247800-10250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:10247800-10251600	Active TSS	Adipose Nuclei	Adipose
40	chr12:10247800-10252400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:10248200-10248600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:10248200-10249600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:10248400-10248800	Enhancers	Psoas Muscle	Psoas
44	chr12:10248600-10248800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:10248600-10250200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:10248600-10250200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:10248800-10249400	Active TSS	Lung	lung
48	chr12:10248800-10251200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:10248800-10251600	Active TSS	Left Ventricle	heart
50	chr12:10248800-10251600	Active TSS	Psoas Muscle	Psoas

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