Variant report

Variant	nsv977147
Chromosome Location	chr12:1471324-1476699
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:
2	chr12:1468373..1470006-chr12:1472386..1474129,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543083120	chr12:1471333-1471334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188094253	chr12:1471343-1471344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547057765	chr12:1471408-1471409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559323289	chr12:1471411-1471412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192415186	chr12:1471481-1471482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182197935	chr12:1471573-1471574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528652390	chr12:1471600-1471601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74057180	chr12:1471614-1471615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139245581	chr12:1471615-1471616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567813187	chr12:1471622-1471623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531938369	chr12:1471648-1471649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79574206	chr12:1471672-1471673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571635673	chr12:1471673-1471674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73038690	chr12:1471715-1471716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76522837	chr12:1471748-1471749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578021386	chr12:1471776-1471777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188039596	chr12:1471809-1471810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536093871	chr12:1471935-1471936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74057181	chr12:1471969-1471970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74057182	chr12:1471982-1471983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74057183	chr12:1472001-1472002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375123919	chr12:1472004-1472005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192500243	chr12:1472039-1472040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576837754	chr12:1472060-1472061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74057184	chr12:1472093-1472094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559048699	chr12:1472112-1472113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537352064	chr12:1472157-1472158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529717399	chr12:1472203-1472204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12300640	chr12:1472282-1472283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561557016	chr12:1472297-1472298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532080043	chr12:1472298-1472299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550077269	chr12:1472353-1472354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369937526	chr12:1472360-1472361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571825792	chr12:1472367-1472368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532460754	chr12:1472387-1472388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528821520	chr12:1472394-1472395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150248582	chr12:1472421-1472422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184714556	chr12:1472433-1472434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190001443	chr12:1472490-1472491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77315173	chr12:1472521-1472522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554576404	chr12:1472524-1472525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540616109	chr12:1472534-1472535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569590216	chr12:1472552-1472553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537375741	chr12:1472565-1472566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373124473	chr12:1472566-1472567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576981045	chr12:1472581-1472582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79910681	chr12:1472655-1472656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553101716	chr12:1472668-1472669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574626099	chr12:1472682-1472683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527965517	chr12:1472696-1472697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1434600-1473000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
9	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
11	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
12	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:1458400-1473000	Weak transcription	Primary T cells from cord blood	blood
15	chr12:1460200-1472200	Weak transcription	Right Atrium	heart
16	chr12:1460200-1478600	Weak transcription	Psoas Muscle	Psoas
17	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
18	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:1460600-1474600	Weak transcription	NHEK	skin
21	chr12:1461400-1480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:1461400-1483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:1461600-1481600	Weak transcription	HMEC	breast
24	chr12:1464800-1478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:1464800-1478600	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:1465000-1471600	Weak transcription	Right Ventricle	heart
27	chr12:1465400-1479800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:1465400-1489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:1466600-1476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:1466600-1476800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:1466600-1483000	Weak transcription	Fetal Stomach	stomach
32	chr12:1466800-1476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:1466800-1483200	Weak transcription	NHLF	lung
34	chr12:1467200-1471400	Weak transcription	Left Ventricle	heart
35	chr12:1467400-1481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:1468800-1474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:1470000-1478400	Weak transcription	HSMMtube	muscle
38	chr12:1470000-1482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:1470200-1473000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:1470200-1476600	Weak transcription	HSMM	muscle
41	chr12:1470400-1481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:1470600-1476800	Weak transcription	Fetal Brain Male	brain
43	chr12:1470800-1472000	Enhancers	K562	blood
44	chr12:1470800-1482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:1471000-1476600	Weak transcription	NH-A	brain
46	chr12:1471000-1480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:1471200-1471600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:1471200-1472000	Enhancers	Fetal Heart	heart
49	chr12:1471400-1471800	Enhancers	Left Ventricle	heart
50	chr12:1471600-1471800	Enhancers	Muscle Satellite Cultured Cells	--

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