Variant report

Variant	esv3415811
Chromosome Location	chr14:69923106-69923572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69865252..69866906-chr14:69922886..69924769,3	MCF-7	breast:
2	chr14:69815842..69819268-chr14:69923313..69926949,3	MCF-7	breast:
3	chr14:69821722..69824231-chr14:69923203..69925103,2	MCF-7	breast:
4	chr14:69819465..69821642-chr14:69923369..69926196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000029364	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000100626	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539722832	chr14:69923147-69923148	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557677538	chr14:69923168-69923169	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575821534	chr14:69923187-69923188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543246543	chr14:69923191-69923192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142544417	chr14:69923196-69923197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532453147	chr14:69923221-69923222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550793215	chr14:69923241-69923242	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573696699	chr14:69923281-69923282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540630175	chr14:69923325-69923326	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559303484	chr14:69923342-69923343	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs192170997	chr14:69923360-69923361	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150537910	chr14:69923362-69923363	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs564007139	chr14:69923400-69923401	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569115111	chr14:69923439-69923440	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs183331290	chr14:69923464-69923465	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hematopoietic stem cell	20738155	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69868000-69923200	Weak transcription	Esophagus	oesophagus
2	chr14:69889200-69923400	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:69889400-69923200	Weak transcription	Pancreas	Pancrea
4	chr14:69892200-69931400	Weak transcription	K562	blood
5	chr14:69893200-69926800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:69893600-69923200	Weak transcription	Gastric	stomach
7	chr14:69893600-69925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:69894000-69924400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:69902400-69927000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
11	chr14:69906800-69924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:69906800-69924400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:69909000-69933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:69910400-69927200	Weak transcription	NHEK	skin
15	chr14:69911600-69925600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:69915800-69932600	Weak transcription	Fetal Heart	heart
17	chr14:69916200-69927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:69916400-69926400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:69918400-69929200	Strong transcription	Primary T cells from cord blood	blood
20	chr14:69919200-69929600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:69919600-69926200	Strong transcription	Primary B cells from cord blood	blood
22	chr14:69919600-69929000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:69919800-69924000	Strong transcription	GM12878-XiMat	blood
24	chr14:69919800-69925000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:69919800-69925800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:69919800-69926000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:69919800-69926000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:69919800-69926000	Strong transcription	Ovary	ovary
29	chr14:69919800-69926000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:69919800-69926400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:69919800-69926600	Strong transcription	HSMM	muscle
32	chr14:69919800-69928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:69919800-69929000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:69919800-69929000	Strong transcription	Dnd41	blood
35	chr14:69919800-69929400	Strong transcription	Fetal Intestine Large	intestine
36	chr14:69919800-69929600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:69919800-69929800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:69920000-69926000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:69920000-69926200	Strong transcription	Liver	Liver
40	chr14:69920000-69926200	Strong transcription	Osteobl	bone
41	chr14:69920000-69926400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr14:69920000-69928600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:69920000-69928800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:69920000-69929000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:69920000-69929000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:69920000-69929000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69920000-69929400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:69920000-69929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:69920000-69930400	Weak transcription	Right Ventricle	heart
50	chr14:69920200-69923800	Strong transcription	Placenta Amnion	Placenta Amnion

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