Variant report

Variant	esv2433998
Chromosome Location	chr7:137531148-137531148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 87 )

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	rs200812531	chr7:137531148-137531149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137527200-137532600	Active TSS	Brain Anterior Caudate	brain
2	chr7:137528600-137532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:137528800-137532800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:137529400-137531200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:137529600-137531200	Flanking Active TSS	Fetal Brain Male	brain
6	chr7:137530400-137531200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:137530400-137531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:137530400-137531200	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr7:137530400-137531200	Flanking Active TSS	Osteobl	bone
10	chr7:137530400-137531800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:137530400-137531800	Active TSS	NH-A	brain
12	chr7:137530400-137532800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:137530600-137531200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:137530600-137531800	Bivalent/Poised TSS	GM12878-XiMat	blood
15	chr7:137530600-137532400	Active TSS	HSMM	muscle
16	chr7:137530800-137531200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr7:137530800-137531200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr7:137530800-137531200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:137530800-137531200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr7:137530800-137531200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
21	chr7:137530800-137531400	Enhancers	Fetal Heart	heart
22	chr7:137530800-137531600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:137530800-137531800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr7:137530800-137532000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:137530800-137532400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137530800-137532400	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:137530800-137532600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:137530800-137532600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr7:137530800-137532600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:137530800-137532600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:137530800-137532600	Active TSS	Fetal Brain Female	brain
34	chr7:137530800-137532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:137530800-137532800	Active TSS	Brain Angular Gyrus	brain
36	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr7:137531000-137531200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:137531000-137531200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr7:137531000-137531200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr7:137531000-137531200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr7:137531000-137531200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr7:137531000-137531200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:137531000-137531200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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