Variant report

Variant	nsv520791
Chromosome Location	chr12:4360589-4373928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4365805..4368138-chr12:4380980..4384884,3	K562	blood:
2	chr12:4364148..4367095-chr12:4369616..4372234,2	K562	blood:
3	chr12:4366467..4368180-chr12:4540128..4541713,2	K562	blood:
4	chr12:4364148..4367095-chr12:4369616..4372234,2	K562	blood:
5	chr12:4211212..4213696-chr12:4362368..4364993,2	K562	blood:
6	chr12:4241654..4243581-chr12:4369238..4370805,2	K562	blood:
7	chr12:4362310..4364658-chr12:4374919..4377826,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF23-1	chr12:4361901-4362351	ENSG00000255920.1
2	lnc-CCND2-3	chr12:4371962-4372767	NONHSAT025949

No data

Variant related genes	Relation type
ENSG00000118971	chromatin interactions
ENSG00000255920	chromatin interactions

Extended variants
information (count: 394 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10774213	chr12:4360589-4360590	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145187773	chr12:4360607-4360608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs527626178	chr12:4360608-4360609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531675617	chr12:4360642-4360643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs11616080	chr12:4360669-4360670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs540903706	chr12:4360671-4360672	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs560583438	chr12:4360672-4360673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs140264068	chr12:4360716-4360717	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs370056075	chr12:4360735-4360736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs557590005	chr12:4360765-4360766	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs568496915	chr12:4360766-4360767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529654846	chr12:4360776-4360777	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs112906492	chr12:4360779-4360780	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs549480001	chr12:4360792-4360793	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs28723390	chr12:4360809-4360810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28520719	chr12:4360810-4360811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561463643	chr12:4360814-4360815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534020482	chr12:4360847-4360848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554298699	chr12:4360851-4360852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569734622	chr12:4360869-4360870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149107867	chr12:4360885-4360886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376324871	chr12:4360888-4360889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201020921	chr12:4360889-4360890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56242048	chr12:4360900-4360901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532067827	chr12:4360903-4360904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61243252	chr12:4360908-4360909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147688150	chr12:4360909-4360910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201412958	chr12:4360910-4360911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397958634	chr12:4360911-4360912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386759746	chr12:4360912-4360913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28726148	chr12:4360916-4360917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552779747	chr12:4360919-4360920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374815329	chr12:4360931-4360932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199970819	chr12:4360937-4360938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201263202	chr12:4360938-4360939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557653058	chr12:4360939-4360940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112337191	chr12:4360951-4360952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535370226	chr12:4360954-4360955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555288001	chr12:4360958-4360959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568736429	chr12:4360959-4360960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146853804	chr12:4360963-4360964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180791663	chr12:4360966-4360967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113917922	chr12:4360985-4360986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377498409	chr12:4361072-4361073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184639041	chr12:4361135-4361136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545976571	chr12:4361319-4361320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558743222	chr12:4361353-4361354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142387928	chr12:4361364-4361365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540793210	chr12:4361374-4361375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537847221	chr12:4361421-4361422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4349800-4361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:4352600-4361800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4359200-4363000	Enhancers	Fetal Muscle Leg	muscle
4	chr12:4359400-4360600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:4359400-4360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:4359400-4361200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:4359400-4361600	Enhancers	Fetal Heart	heart
8	chr12:4359600-4360600	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:4359600-4361400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:4359800-4360800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:4359800-4360800	Bivalent Enhancer	HSMMtube	muscle
12	chr12:4360000-4360800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:4360000-4361000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:4360200-4360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:4360200-4360800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:4360200-4361200	Enhancers	Primary T cells from cord blood	blood
17	chr12:4360200-4361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:4360200-4361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:4360400-4360800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:4360400-4361200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:4360400-4361200	Weak transcription	Left Ventricle	heart
22	chr12:4360400-4361600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:4360600-4361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:4361200-4362000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:4361200-4362600	Enhancers	Right Ventricle	heart
26	chr12:4361200-4362800	Enhancers	Fetal Muscle Trunk	muscle
27	chr12:4361200-4363000	Enhancers	Left Ventricle	heart
28	chr12:4361600-4361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:4361600-4361800	Flanking Active TSS	Fetal Heart	heart
30	chr12:4361600-4362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:4361600-4362600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:4361600-4362600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:4361600-4362600	Bivalent Enhancer	HSMMtube	muscle
34	chr12:4361600-4362800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:4361800-4362000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:4361800-4362000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:4361800-4362200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:4361800-4362200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:4361800-4362200	Enhancers	Fetal Heart	heart
40	chr12:4361800-4362400	Bivalent Enhancer	Placenta	Placenta
41	chr12:4361800-4363600	Enhancers	Fetal Lung	lung
42	chr12:4362000-4362400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:4362200-4362800	Flanking Active TSS	Fetal Heart	heart
44	chr12:4362800-4363000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:4362800-4363600	Enhancers	Fetal Heart	heart
46	chr12:4365000-4366000	Enhancers	NHEK	skin
47	chr12:4365400-4365800	Enhancers	HMEC	breast
48	chr12:4369400-4370800	Enhancers	GM12878-XiMat	blood
49	chr12:4370800-4371400	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:4371200-4371600	Enhancers	Primary B cells from peripheral blood	blood

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