Variant report

Variant	esv15076
Chromosome Location	chr14:32363648-32364163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562630866	chr14:32363663-32363664	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532854320	chr14:32363673-32363674	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147251349	chr14:32363696-32363697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566430101	chr14:32363721-32363722	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193290146	chr14:32363738-32363739	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549340339	chr14:32363789-32363790	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567553879	chr14:32363828-32363829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376963370	chr14:32363858-32363859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140679142	chr14:32363868-32363869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575705546	chr14:32363869-32363870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539506859	chr14:32363946-32363947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540921331	chr14:32363951-32363952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558134894	chr14:32363952-32363953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368271201	chr14:32363968-32363969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4981926	chr14:32363980-32363981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4981927	chr14:32363992-32363993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557748974	chr14:32364002-32364003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142265416	chr14:32364024-32364025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573973470	chr14:32364034-32364035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4981928	chr14:32364044-32364045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32354400-32364600	Weak transcription	HSMM	muscle
2	chr14:32358800-32366600	Weak transcription	Fetal Brain Female	brain
3	chr14:32360600-32365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:32360600-32365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:32360800-32365200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:32361000-32365200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:32361200-32364800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:32361400-32365200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:32362000-32364000	Enhancers	Adipose Nuclei	Adipose
10	chr14:32362000-32365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:32362200-32363800	Enhancers	Fetal Heart	heart
12	chr14:32362200-32365200	Enhancers	Stomach Mucosa	stomach
13	chr14:32362400-32363800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:32362400-32364000	Enhancers	Fetal Muscle Leg	muscle
15	chr14:32362400-32364200	Enhancers	Lung	lung
16	chr14:32362400-32364200	Enhancers	NHEK	skin
17	chr14:32362400-32364800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:32362400-32365000	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:32362400-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:32362400-32365200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:32362400-32365200	Enhancers	HMEC	breast
22	chr14:32362600-32364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:32362600-32364000	Weak transcription	Brain Angular Gyrus	brain
24	chr14:32362600-32364200	Weak transcription	NHLF	lung
25	chr14:32362600-32364400	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:32362600-32365000	Enhancers	Fetal Stomach	stomach
27	chr14:32362600-32365200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:32362600-32365600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:32362800-32364000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:32362800-32364000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:32362800-32364200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:32362800-32364200	Weak transcription	Osteobl	bone
33	chr14:32363000-32364000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:32363000-32364000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:32363000-32364000	Weak transcription	Brain Substantia Nigra	brain
36	chr14:32363000-32364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:32363000-32364200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:32363000-32364200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:32363000-32364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:32363000-32364800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:32363000-32366800	Weak transcription	Fetal Lung	lung
42	chr14:32363200-32363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:32363200-32364000	Weak transcription	Placenta	Placenta
44	chr14:32363200-32364200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:32363200-32364200	Flanking Active TSS	K562	blood
46	chr14:32363200-32364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:32363200-32365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:32363200-32366200	Weak transcription	Left Ventricle	heart
49	chr14:32363400-32363800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:32363400-32363800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links