Variant report

Variant	esv1573976
Chromosome Location	chr13:96486488-96486490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:96275906..96276854-chr13:96486114..96486980,5	K562	blood:
2	chr13:96275895..96276755-chr13:96486107..96487061,4	MCF-7	breast:
3	chr13:96275890..96276432-chr13:96486160..96486773,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 82 )

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	rs397826141	chr13:96486489-96486490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96445800-96490000	Weak transcription	HepG2	liver
2	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
3	chr13:96467400-96490800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr13:96468200-96489800	Weak transcription	GM12878-XiMat	blood
5	chr13:96476000-96502600	Weak transcription	Fetal Heart	heart
6	chr13:96476400-96489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:96478000-96498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:96478000-96502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:96478000-96502600	Weak transcription	Left Ventricle	heart
10	chr13:96478000-96568400	Weak transcription	Placenta	Placenta
11	chr13:96478200-96489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:96478200-96489800	Weak transcription	Fetal Intestine Large	intestine
13	chr13:96478200-96489800	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:96478200-96490000	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:96478200-96490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:96478200-96490400	Weak transcription	Liver	Liver
17	chr13:96478200-96490600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:96478200-96493600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:96478200-96495000	Weak transcription	Lung	lung
20	chr13:96478200-96502200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:96478200-96502600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:96478200-96502600	Weak transcription	Aorta	Aorta
24	chr13:96478200-96502600	Weak transcription	Fetal Stomach	stomach
25	chr13:96478200-96502600	Weak transcription	Gastric	stomach
26	chr13:96478200-96502600	Weak transcription	Ovary	ovary
27	chr13:96478600-96491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:96479800-96489600	Weak transcription	Fetal Intestine Small	intestine
29	chr13:96480400-96488600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:96485200-96486600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:96485400-96486600	Enhancers	NHEK	skin
32	chr13:96485400-96488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:96485600-96486600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:96485600-96486600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:96485600-96486600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:96485600-96486600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:96485600-96486600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:96485600-96486600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:96485600-96486600	Enhancers	HMEC	breast
40	chr13:96485800-96486600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:96485800-96486600	Enhancers	Brain Anterior Caudate	brain
42	chr13:96485800-96486600	Enhancers	HSMM	muscle
43	chr13:96485800-96486600	Enhancers	NH-A	brain
44	chr13:96486000-96486600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:96486000-96486600	Enhancers	Adipose Nuclei	Adipose
46	chr13:96486000-96486600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr13:96486000-96486600	Flanking Active TSS	HUVEC	blood vessel
48	chr13:96486200-96486600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:96486200-96489600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:96486400-96486600	Enhancers	Primary monocytes fromperipheralblood	blood

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