Variant report

Variant	nsv983450
Chromosome Location	chr12:60011741-60014929
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	chr12:60013598..60016258-chr12:60017696..60019251,2	MCF-7	breast:
2	chr12:59988960..59991017-chr12:60010230..60012662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530127792	chr12:60011787-60011788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190333146	chr12:60011818-60011819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570241428	chr12:60011906-60011907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150015000	chr12:60011939-60011940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552870894	chr12:60011944-60011945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566389052	chr12:60011987-60011988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34502930	chr12:60012017-60012018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533737915	chr12:60012025-60012026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180953333	chr12:60012057-60012058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183533885	chr12:60012058-60012059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188616045	chr12:60012076-60012077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555866612	chr12:60012095-60012096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145221963	chr12:60012135-60012136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371580617	chr12:60012241-60012242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544818761	chr12:60012347-60012348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145001748	chr12:60012375-60012376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564796663	chr12:60012435-60012436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113634990	chr12:60012471-60012472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532433326	chr12:60012478-60012479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552273784	chr12:60012488-60012489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541357840	chr12:60012498-60012499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561110329	chr12:60012620-60012621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530138206	chr12:60012675-60012676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374665648	chr12:60012677-60012678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550271404	chr12:60012687-60012688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148719488	chr12:60012688-60012689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565688764	chr12:60012720-60012721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532714723	chr12:60012756-60012757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181057193	chr12:60012774-60012775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78074957	chr12:60012859-60012860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371180163	chr12:60012992-60012993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7965740	chr12:60013003-60013004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17122713	chr12:60013021-60013022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs137993418	chr12:60013038-60013039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185879645	chr12:60013062-60013063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567128150	chr12:60013068-60013069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193052296	chr12:60013074-60013075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535865527	chr12:60013076-60013077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555805355	chr12:60013146-60013147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569421927	chr12:60013168-60013169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568690788	chr12:60013189-60013190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562835510	chr12:60013341-60013342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192081317	chr12:60013347-60013348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78721555	chr12:60013360-60013361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144607667	chr12:60013382-60013383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540947913	chr12:60013539-60013540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554871343	chr12:60013556-60013557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574709884	chr12:60013575-60013576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147653635	chr12:60013577-60013578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563729290	chr12:60013590-60013591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59992600-60013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:60005000-60011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:60006200-60012200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:60006200-60014400	Weak transcription	Pancreas	Pancrea
5	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
6	chr12:60006400-60012400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
8	chr12:60006800-60013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:60007000-60013200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:60007200-60012800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:60007400-60012400	Weak transcription	Primary T cells from cord blood	blood
13	chr12:60007400-60013400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:60007600-60013200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:60007600-60013400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:60007800-60013600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:60008000-60012600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:60008400-60012200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:60009600-60020400	Weak transcription	NHDF-Ad	bronchial
20	chr12:60009800-60012800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:60009800-60013400	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:60009800-60014200	Weak transcription	Aorta	Aorta
23	chr12:60009800-60033200	Weak transcription	Ovary	ovary
24	chr12:60010000-60015200	Enhancers	Fetal Heart	heart
25	chr12:60010800-60015400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:60011800-60014400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:60012200-60012400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:60012200-60014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:60012400-60012800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:60012400-60014400	Enhancers	Primary T cells from cord blood	blood
31	chr12:60012400-60014400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:60012400-60015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:60012600-60012800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:60012600-60013600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:60012800-60013200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:60012800-60013600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:60012800-60013800	Enhancers	Brain Germinal Matrix	brain
38	chr12:60012800-60014400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:60012800-60015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:60013000-60013800	Enhancers	Dnd41	blood
41	chr12:60013000-60021200	Weak transcription	NHLF	lung
42	chr12:60013200-60013600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:60013200-60013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:60013200-60014400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:60013200-60014600	Enhancers	Brain Substantia Nigra	brain
46	chr12:60013200-60015400	Enhancers	Primary B cells from cord blood	blood
47	chr12:60013400-60013600	Enhancers	Right Ventricle	heart
48	chr12:60013400-60013800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:60013400-60014000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:60013400-60014200	Enhancers	Primary monocytes fromperipheralblood	blood

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