Variant report

Variant	esv2487628
Chromosome Location	chr12:1474413-1475715
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	chr12:1474380..1476005-chr12:1477724..1479472,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576137715	chr12:1474428-1474429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185016596	chr12:1474458-1474459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546917886	chr12:1474465-1474466	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189482082	chr12:1474480-1474481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536860551	chr12:1474486-1474487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562507966	chr12:1474493-1474494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369163696	chr12:1474494-1474495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529089572	chr12:1474502-1474503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77071351	chr12:1474503-1474504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369899166	chr12:1474504-1474505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181856132	chr12:1474518-1474519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568909684	chr12:1474559-1474560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539179493	chr12:1474594-1474595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557699411	chr12:1474596-1474597	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187178038	chr12:1474606-1474607	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534941907	chr12:1474726-1474727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575759467	chr12:1474774-1474775	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191608404	chr12:1474782-1474783	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112517084	chr12:1474789-1474790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139136312	chr12:1474805-1474806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535075972	chr12:1474839-1474840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183511357	chr12:1474851-1474852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186483514	chr12:1474860-1474861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149915096	chr12:1474862-1474863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190190997	chr12:1474863-1474864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147168900	chr12:1474923-1474924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114088995	chr12:1474924-1474925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561948012	chr12:1474940-1474941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73040853	chr12:1474966-1474967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374461829	chr12:1474979-1474980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550720920	chr12:1475011-1475012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540758301	chr12:1475014-1475015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1419965	chr12:1475031-1475032	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533003408	chr12:1475032-1475033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1419964	chr12:1475038-1475039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112941792	chr12:1475090-1475091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371317886	chr12:1475157-1475158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566611446	chr12:1475173-1475174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533536830	chr12:1475184-1475185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149227139	chr12:1475225-1475226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78297228	chr12:1475231-1475232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535768641	chr12:1475236-1475237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561645456	chr12:1475268-1475269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557497279	chr12:1475302-1475303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548229375	chr12:1475324-1475325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575751601	chr12:1475332-1475333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540070457	chr12:1475344-1475345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76659678	chr12:1475404-1475405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368022694	chr12:1475450-1475451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546449085	chr12:1475512-1475513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	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
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
8	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
10	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
11	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:1460200-1478600	Weak transcription	Psoas Muscle	Psoas
14	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:1460600-1474600	Weak transcription	NHEK	skin
18	chr12:1461400-1480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:1461400-1483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:1461600-1481600	Weak transcription	HMEC	breast
21	chr12:1464800-1478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:1464800-1478600	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:1465400-1479800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:1465400-1489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:1466600-1476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:1466600-1476800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:1466600-1483000	Weak transcription	Fetal Stomach	stomach
28	chr12:1466800-1476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:1466800-1483200	Weak transcription	NHLF	lung
30	chr12:1467400-1481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:1470000-1478400	Weak transcription	HSMMtube	muscle
32	chr12:1470000-1482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:1470200-1476600	Weak transcription	HSMM	muscle
34	chr12:1470400-1481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:1470600-1476800	Weak transcription	Fetal Brain Male	brain
36	chr12:1470800-1482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:1471000-1476600	Weak transcription	NH-A	brain
38	chr12:1471000-1480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:1471800-1487200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:1472000-1487800	Weak transcription	K562	blood
41	chr12:1472800-1474800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:1473000-1474600	Enhancers	Fetal Heart	heart
43	chr12:1473200-1481000	Weak transcription	Right Atrium	heart
44	chr12:1473200-1500400	Weak transcription	Right Ventricle	heart
45	chr12:1473400-1476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:1473400-1485000	Weak transcription	Left Ventricle	heart
47	chr12:1474000-1475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:1474000-1483800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:1474200-1476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:1474200-1480400	Weak transcription	Primary T cells from cord blood	blood

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