Variant report

Variant	nsv520819
Chromosome Location	chr12:779906-789630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:751811..754307-chr12:785925..788890,4	MCF-7	breast:
2	chr12:784539..786532-chr12:803214..805167,2	K562	blood:
3	chr12:774861..777730-chr12:780859..783120,2	K562	blood:
4	chr12:752374..754889-chr12:785771..788046,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ2-1	chr12:783967-784185	ENSG00000256672

Variant related genes	Relation type
ENSG00000171840	chromatin interactions
ENSG00000177406	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7314661	chr12:779906-779907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538848209	chr12:779989-779990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151071828	chr12:779993-779994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4980960	chr12:780043-780044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12316534	chr12:780060-780061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574629491	chr12:780063-780064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541617236	chr12:780091-780092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150211189	chr12:780102-780103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543287346	chr12:780118-780119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575399349	chr12:780119-780120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138729581	chr12:780133-780134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111851010	chr12:780137-780138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148918408	chr12:780141-780142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561173653	chr12:780176-780177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188777698	chr12:780177-780178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573267314	chr12:780201-780202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192874389	chr12:780202-780203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562103614	chr12:780256-780257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561751954	chr12:780322-780323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73598178	chr12:780429-780430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185146735	chr12:780475-780476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531075855	chr12:780588-780589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368831434	chr12:780602-780603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145563717	chr12:780632-780633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530925968	chr12:780642-780643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571085217	chr12:780644-780645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534679946	chr12:780650-780651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188763881	chr12:780733-780734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568209034	chr12:780763-780764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535560944	chr12:780768-780769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540011160	chr12:780789-780790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386759381	chr12:780791-780792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556841062	chr12:780793-780794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550053981	chr12:780805-780806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575414020	chr12:780815-780816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368118688	chr12:780817-780818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191624771	chr12:780844-780845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573210141	chr12:780856-780857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550811405	chr12:780892-780893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561713138	chr12:780907-780908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183828699	chr12:780944-780945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544310481	chr12:780972-780973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563702276	chr12:781003-781004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138125246	chr12:781011-781012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142599300	chr12:781014-781015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570798970	chr12:781018-781019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569811316	chr12:781028-781029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528803326	chr12:781031-781032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188246030	chr12:781057-781058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34924938	chr12:781125-781126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:772800-786600	Enhancers	Fetal Thymus	thymus
2	chr12:773000-781800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:773000-786000	Weak transcription	Left Ventricle	heart
4	chr12:775200-785000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:776000-781800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:776200-785000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:776600-781200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:776800-781200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:776800-782400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:776800-783400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:777000-781000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:777000-781000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:777000-781200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:777000-781200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:777000-781400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:777000-781400	Weak transcription	HepG2	liver
17	chr12:777000-783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:777000-788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:777600-781200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:777600-781200	Weak transcription	Thymus	Thymus
21	chr12:777600-781200	Enhancers	GM12878-XiMat	blood
22	chr12:777600-783000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:777600-783600	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:778400-781000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:778400-781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:778400-781600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:778800-781800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:779000-781200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:779200-780200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:779200-780200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:779800-780000	Enhancers	Primary T cells from cord blood	blood
32	chr12:779800-780000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:779800-781200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:779800-783200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:780000-780600	Weak transcription	Primary T cells from cord blood	blood
36	chr12:780000-781000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:780200-780400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:780200-783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:780400-780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:780600-781200	Enhancers	Primary T cells from cord blood	blood
41	chr12:780800-781600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:781000-781200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:781000-781400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:781000-781600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:781000-784400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:781200-781400	Enhancers	Thymus	Thymus
47	chr12:781200-781600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr12:781200-781600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:781200-781600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:781200-781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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