Variant report

Variant	esv1641999
Chromosome Location	chr4:166011341-166011342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 70 )

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	rs180870493	chr4:166011341-166011342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71602567	chr4:166011342-166011343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
6	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
7	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
9	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
10	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:165999600-166033000	Weak transcription	Osteobl	bone
14	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
15	chr4:166001200-166020600	Weak transcription	Fetal Heart	heart
16	chr4:166005000-166012000	Strong transcription	Fetal Intestine Large	intestine
17	chr4:166005000-166015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
19	chr4:166005000-166023600	Strong transcription	Ovary	ovary
20	chr4:166005200-166012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:166005200-166012000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:166005200-166017000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:166005200-166017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:166005200-166018600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
26	chr4:166005200-166024200	Strong transcription	Liver	Liver
27	chr4:166005400-166016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:166005600-166012800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:166005800-166011800	Strong transcription	Brain Hippocampus Middle	brain
30	chr4:166005800-166026000	Weak transcription	Psoas Muscle	Psoas
31	chr4:166005800-166033000	Weak transcription	NH-A	brain
32	chr4:166006000-166016200	Weak transcription	HSMM	muscle
33	chr4:166006600-166012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:166006600-166012600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:166006600-166012800	Strong transcription	Primary T cells from cord blood	blood
36	chr4:166006800-166011800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:166007200-166033000	Weak transcription	A549	lung
38	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:166007600-166023000	Weak transcription	K562	blood
40	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
42	chr4:166007800-166020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:166007800-166020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:166008000-166032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:166008600-166032600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr4:166008600-166032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:166008600-166033000	Weak transcription	Colonic Mucosa	Colon
48	chr4:166008600-166033200	Weak transcription	Gastric	stomach
49	chr4:166008800-166020400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:166009200-166033400	Weak transcription	Small Intestine	intestine

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