Variant report

Variant	esv1711035
Chromosome Location	chr2:188858927-188858928
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	chr2:188856527..188859144-chr2:188859794..188861420,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 48 )

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	rs397869449	chr2:188858928-188858929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188852000-188859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:188855000-188859200	Weak transcription	GM12878-XiMat	blood
7	chr2:188855200-188859200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:188855200-188859400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:188855400-188859400	Weak transcription	Fetal Thymus	thymus
10	chr2:188855400-188860000	Enhancers	Primary T cells from cord blood	blood
11	chr2:188856000-188860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:188857000-188859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:188857600-188860200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:188857800-188859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:188858200-188859000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:188858200-188860000	Enhancers	HSMMtube	muscle
21	chr2:188858200-188860200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:188858200-188860400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
24	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:188858400-188859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:188858400-188859000	Enhancers	NHDF-Ad	bronchial
27	chr2:188858400-188859400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:188858400-188860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:188858400-188860400	Enhancers	Brain Anterior Caudate	brain
30	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:188858600-188859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:188858600-188859000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:188858600-188859000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:188858600-188859200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:188858600-188859200	Enhancers	Fetal Stomach	stomach
36	chr2:188858600-188859600	Enhancers	Lung	lung
37	chr2:188858600-188859800	Enhancers	Ovary	ovary
38	chr2:188858600-188860000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:188858600-188860000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:188858800-188859800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:188858800-188860400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:188858800-188861000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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