Variant report

Variant	nsv983239
Chromosome Location	chr12:21392756-21405241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 343 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:343 , 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	rs532608977	chr12:21392778-21392779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11045892	chr12:21392794-21392795	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11045893	chr12:21392819-21392820	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs531798339	chr12:21392839-21392840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191313578	chr12:21392861-21392862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146311058	chr12:21392867-21392868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528008280	chr12:21392878-21392879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148530400	chr12:21392886-21392887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570470452	chr12:21392901-21392902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141913611	chr12:21392938-21392939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541541836	chr12:21392960-21392961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549848764	chr12:21392980-21392981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12372157	chr12:21393018-21393019	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535659691	chr12:21393151-21393152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555669560	chr12:21393162-21393163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572348442	chr12:21393194-21393195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534952043	chr12:21393304-21393305	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553869321	chr12:21393318-21393319	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577172995	chr12:21393338-21393339	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs71844199	chr12:21393346-21393347	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369201161	chr12:21393347-21393348	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372063541	chr12:21393348-21393349	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545937762	chr12:21393390-21393391	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76497895	chr12:21393419-21393420	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11045895	chr12:21393469-21393470	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77757956	chr12:21393480-21393481	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561982007	chr12:21393482-21393483	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs527970971	chr12:21393506-21393507	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548117612	chr12:21393533-21393534	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78588787	chr12:21393570-21393571	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532950249	chr12:21393572-21393573	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549573970	chr12:21393581-21393582	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12370842	chr12:21393586-21393587	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs11045896	chr12:21393651-21393652	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111273303	chr12:21393726-21393727	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115431317	chr12:21393729-21393730	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111436442	chr12:21393753-21393754	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558043020	chr12:21393797-21393798	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570723285	chr12:21393801-21393802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556314829	chr12:21393815-21393816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs386761053	chr12:21393829-21393830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12367506	chr12:21393830-21393831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144884205	chr12:21393866-21393867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186893702	chr12:21394001-21394002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369977227	chr12:21394009-21394010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191282614	chr12:21394147-21394148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201278262	chr12:21394156-21394157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147960934	chr12:21394175-21394176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182183235	chr12:21394195-21394196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78059366	chr12:21394217-21394218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21385800-21397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:21389200-21393000	Strong transcription	Liver	Liver
3	chr12:21393000-21395000	ZNF genes & repeats	Liver	Liver
4	chr12:21393200-21393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:21393800-21394400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:21394400-21394600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:21394400-21394600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:21397800-21399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:21398000-21399200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:21398200-21398600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:21399000-21401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:21401400-21402400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:21401800-21402000	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:21402200-21402600	Enhancers	Fetal Heart	heart

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