Variant report

Variant	esv3447984
Chromosome Location	chr12:12529498-12530062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
2	chr12:12529317..12530147-chr12:12808561..12809309,3	K562	blood:
3	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
4	chr12:12508497..12510863-chr12:12526548..12530591,3	MCF-7	breast:
5	chr12:12526769..12529809-chr12:12714703..12717328,3	K562	blood:
6	chr12:12529065..12530274-chr12:12856801..12858158,7	K562	blood:
7	chr12:12529157..12530332-chr12:12857224..12858201,8	MCF-7	breast:
8	chr12:12529613..12530179-chr12:12808665..12809480,2	MCF-7	breast:
9	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111266	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000205791	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534553011	chr12:12529512-12529513	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs577643335	chr12:12529530-12529531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185805492	chr12:12529543-12529544	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577747518	chr12:12529548-12529549	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs149304818	chr12:12529551-12529552	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557276671	chr12:12529584-12529585	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575559911	chr12:12529609-12529610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117457927	chr12:12529614-12529615	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs377765390	chr12:12529630-12529631	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561615890	chr12:12529696-12529697	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144604655	chr12:12529698-12529699	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs148492349	chr12:12529719-12529720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs7303326	chr12:12529762-12529763	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556618873	chr12:12529764-12529765	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190559080	chr12:12529780-12529781	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs533020800	chr12:12529840-12529841	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551188253	chr12:12529862-12529863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs11829597	chr12:12529865-12529866	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144154948	chr12:12529929-12529930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs146409086	chr12:12529942-12529943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375335798	chr12:12529950-12529951	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs61923564	chr12:12529992-12529993	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183718285	chr12:12529995-12529996	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs534494161	chr12:12530024-12530025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
2	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
4	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
5	chr12:12511400-12540600	Weak transcription	HSMM	muscle
6	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:12511600-12532800	Weak transcription	Osteobl	bone
8	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:12512200-12529800	Weak transcription	Fetal Kidney	kidney
14	chr12:12512200-12540400	Weak transcription	HMEC	breast
15	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
16	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
17	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
18	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:12516200-12537600	Weak transcription	Dnd41	blood
20	chr12:12516400-12529800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:12516400-12535200	Weak transcription	Lung	lung
22	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:12518200-12531800	Weak transcription	Fetal Brain Female	brain
24	chr12:12519200-12529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:12519200-12531400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:12519200-12532200	Weak transcription	Placenta	Placenta
27	chr12:12519200-12532600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
29	chr12:12519400-12532600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:12519400-12537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:12519600-12540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:12519800-12537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:12520200-12529600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:12520200-12535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:12520800-12532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:12521000-12532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:12521000-12532600	Weak transcription	Brain Anterior Caudate	brain
38	chr12:12521000-12532600	Weak transcription	Ovary	ovary
39	chr12:12521000-12538000	Weak transcription	Left Ventricle	heart
40	chr12:12521200-12529800	Weak transcription	Brain Angular Gyrus	brain
41	chr12:12521200-12532600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:12521800-12529800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:12521800-12530200	Weak transcription	Thymus	Thymus
44	chr12:12521800-12531400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
46	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:12522000-12529800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:12522000-12529800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:12522400-12532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:12522400-12532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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