Variant report

Variant	esv1387859
Chromosome Location	chr14:35486050-35486052
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	chr14:35484859..35486804-chr14:35511078..35512949,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 56 )

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	rs201377505	chr14:35486050-35486051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373239357	chr14:35486051-35486052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
3	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:35465200-35500600	Strong transcription	HepG2	liver
5	chr14:35465600-35500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:35465800-35489000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:35466200-35500600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:35466400-35498200	Weak transcription	Spleen	Spleen
11	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:35467000-35496600	Weak transcription	K562	blood
14	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:35468600-35493600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:35468600-35501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:35469000-35488000	Weak transcription	Colonic Mucosa	Colon
18	chr14:35470600-35502600	Strong transcription	Liver	Liver
19	chr14:35471200-35486600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:35471800-35501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:35473400-35501800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:35474200-35486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:35474200-35501400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:35474400-35503400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:35474600-35487000	Weak transcription	NHEK	skin
26	chr14:35475000-35495400	Weak transcription	Aorta	Aorta
27	chr14:35475800-35489400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:35475800-35500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:35475800-35503200	Strong transcription	Adipose Nuclei	Adipose
30	chr14:35476000-35489400	Strong transcription	Fetal Thymus	thymus
31	chr14:35476400-35487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:35477000-35499000	Strong transcription	Placenta	Placenta
33	chr14:35477000-35502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:35477200-35487600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:35477200-35490800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:35477200-35492800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:35477200-35492800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:35477200-35493000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:35477200-35493800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:35477200-35499000	Strong transcription	Osteobl	bone
41	chr14:35477200-35502200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:35477200-35502800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:35477200-35502800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:35477400-35502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:35477800-35489600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:35478200-35489200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:35479200-35491600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:35480000-35490800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:35480000-35493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:35480000-35495400	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links