Variant report

Variant	esv3492749
Chromosome Location	chr12:1461581-1461960
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	chr12:1446527..1449359-chr12:1461325..1463038,2	K562	blood:
2	chr12:1446375..1449359-chr12:1461325..1463031,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182047847	chr12:1461588-1461589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535210264	chr12:1461624-1461625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7136871	chr12:1461648-1461649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs60550704	chr12:1461656-1461657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73038663	chr12:1461679-1461680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569058317	chr12:1461699-1461700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541651158	chr12:1461701-1461702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537191031	chr12:1461721-1461722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140909018	chr12:1461782-1461783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78500002	chr12:1461783-1461784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575390143	chr12:1461810-1461811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373254574	chr12:1461819-1461820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554723171	chr12:1461822-1461823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111777961	chr12:1461861-1461862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528103861	chr12:1461862-1461863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548066743	chr12:1461863-1461864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559795674	chr12:1461864-1461865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530463698	chr12:1461865-1461866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140002494	chr12:1461867-1461868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531606017	chr12:1461869-1461870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7305680	chr12:1461875-1461876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530883367	chr12:1461885-1461886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181499757	chr12:1461891-1461892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570470362	chr12:1461925-1461926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116053816	chr12:1461937-1461938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11836774	chr12:1461954-1461955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:61 , 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	chr12:1434600-1473000	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	chr12:1449800-1464600	Weak transcription	Right Ventricle	heart
9	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
10	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
12	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
13	chr12:1453600-1464200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:1456000-1466400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:1457800-1461600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:1458400-1473000	Weak transcription	Primary T cells from cord blood	blood
19	chr12:1458600-1465800	Weak transcription	HUVEC	blood vessel
20	chr12:1458800-1461600	Enhancers	NHDF-Ad	bronchial
21	chr12:1458800-1462000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:1459800-1462800	Weak transcription	K562	blood
23	chr12:1459800-1464400	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:1459800-1464600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:1459800-1469400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:1460000-1465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:1460000-1466000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:1460000-1466000	Weak transcription	HepG2	liver
29	chr12:1460200-1463200	Weak transcription	Left Ventricle	heart
30	chr12:1460200-1464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:1460200-1464600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:1460200-1464800	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:1460200-1465800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:1460200-1466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:1460200-1472200	Weak transcription	Right Atrium	heart
36	chr12:1460200-1478600	Weak transcription	Psoas Muscle	Psoas
37	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:1460400-1463800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:1460400-1463800	Weak transcription	Ovary	ovary
42	chr12:1460400-1464400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:1460400-1464400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:1460400-1464600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:1460400-1464600	Weak transcription	Fetal Heart	heart
46	chr12:1460400-1464800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:1460400-1464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:1460400-1465800	Weak transcription	NH-A	brain
49	chr12:1460600-1464800	Weak transcription	Osteobl	bone
50	chr12:1460600-1474600	Weak transcription	NHEK	skin

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