Variant report

Variant	esv1579671
Chromosome Location	chr2:127963427-127963428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:127963374-127963624	H1-hESC	embryonic stem cell:	n/a	chr2:127963550-127963564 chr2:127963526-127963538 chr2:127963527-127963549 chr2:127963526-127963542

Variant related genes	Relation type
CYP27C1	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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	rs397706131	chr2:127963428-127963429	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:127948800-127973400	Weak transcription	HMEC	breast
3	chr2:127951200-127965800	Weak transcription	Esophagus	oesophagus
4	chr2:127952200-127964400	Weak transcription	Right Atrium	heart
5	chr2:127952200-127975200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:127954200-127964000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:127954800-127965600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:127955000-127965600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:127956400-127975800	Weak transcription	Fetal Kidney	kidney
10	chr2:127957400-127965800	Weak transcription	NHEK	skin
11	chr2:127959400-127965800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:127961200-127965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:127961400-127965800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:127962400-127963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:127962400-127963600	Enhancers	Placenta	Placenta
16	chr2:127962400-127963600	Genic enhancers	Fetal Stomach	stomach
17	chr2:127962600-127963600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:127962600-127963800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:127962600-127965600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:127962800-127963600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:127962800-127963800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:127963000-127963600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:127963000-127963600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr2:127963000-127963800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:127963000-127963800	Active TSS	Fetal Brain Female	brain
26	chr2:127963000-127965800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:127963200-127963600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:127963200-127963600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:127963200-127963600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:127963200-127963600	Active TSS	Fetal Intestine Small	intestine
31	chr2:127963200-127963800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr2:127963400-127963600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:127963400-127963600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:127963400-127963600	Enhancers	Fetal Lung	lung
35	chr2:127963400-127963800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:127963400-127965400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:127963400-127965800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:127963400-127965800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:127963400-127965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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