Variant report

Variant	esv2588995
Chromosome Location	chr12:1849668-1849668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1848455..1851151-chr12:1856944..1859382,3	K562	blood:
2	chr12:1845642..1847696-chr12:1848443..1850184,2	K562	blood:
3	chr12:1847981..1850303-chr12:1850538..1853225,2	K562	blood:
4	chr12:1814200..1816471-chr12:1849026..1851387,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 81 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12301668	chr12:1849668-1849669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
3	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
4	chr12:1817000-1856600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:1823000-1866600	Weak transcription	Gastric	stomach
6	chr12:1824000-1850400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:1824000-1866600	Weak transcription	HSMM	muscle
8	chr12:1825200-1850200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:1825200-1855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:1826000-1885400	Weak transcription	NH-A	brain
11	chr12:1828600-1855800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:1831200-1850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:1831400-1857800	Weak transcription	Lung	lung
14	chr12:1834400-1850600	Weak transcription	Osteobl	bone
15	chr12:1836800-1855400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:1837000-1861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:1837200-1855400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:1839400-1849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:1840800-1852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:1840800-1854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:1840800-1855600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:1841000-1850000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:1841800-1851400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:1842400-1854200	Weak transcription	Dnd41	blood
25	chr12:1842600-1850200	Weak transcription	Primary T cells from cord blood	blood
26	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:1846000-1851800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:1846000-1852200	Enhancers	HepG2	liver
29	chr12:1846200-1850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:1846200-1851200	Enhancers	Stomach Mucosa	stomach
31	chr12:1846400-1850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:1846600-1851400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1847200-1851200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:1847200-1851400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:1847200-1851800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:1847400-1850200	Weak transcription	GM12878-XiMat	blood
37	chr12:1847600-1850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:1847600-1854200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:1847600-1857800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:1847600-1863800	Weak transcription	Ovary	ovary
41	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
42	chr12:1847800-1850600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:1848200-1850600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:1848400-1849800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:1848400-1850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:1848400-1850200	Enhancers	Psoas Muscle	Psoas
47	chr12:1848400-1851200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:1849000-1850200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:1849000-1850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:1849200-1850200	Enhancers	K562	blood

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