Variant report

Variant	esv1265021
Chromosome Location	chr12:83267027-83267029
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	chr12:83261344..83263422-chr12:83265254..83267423,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71068955	chr12:83267028-83267029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58661834	chr12:83267029-83267030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
3	chr12:83261000-83268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:83262200-83272800	Weak transcription	Fetal Lung	lung
5	chr12:83262200-83278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:83263600-83269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83264000-83267800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:83264200-83267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:83264200-83268200	Enhancers	Brain Anterior Caudate	brain
10	chr12:83264600-83267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:83264600-83268200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:83264600-83278000	Weak transcription	Small Intestine	intestine
13	chr12:83264800-83267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:83264800-83273400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:83264800-83277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:83264800-83277800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:83265000-83267600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:83265000-83267800	Enhancers	Fetal Brain Male	brain
19	chr12:83265000-83269000	Enhancers	Brain Hippocampus Middle	brain
20	chr12:83265000-83269800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:83265000-83269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:83265000-83271600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:83265200-83267800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:83265200-83268000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:83265200-83274200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:83265400-83267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:83265600-83271800	Weak transcription	Fetal Heart	heart
28	chr12:83265600-83274200	Weak transcription	Fetal Brain Female	brain
29	chr12:83265800-83270800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:83266000-83268200	Enhancers	Fetal Stomach	stomach
31	chr12:83266200-83267400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:83266200-83267600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:83266200-83268400	Enhancers	Brain Germinal Matrix	brain
34	chr12:83266200-83271200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:83266200-83272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:83266800-83269600	Enhancers	Brain Substantia Nigra	brain

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