Variant report

Variant	nsv519032
Chromosome Location	chr14:32420188-32420322
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	chr14:32418462..32421329-chr14:32545887..32548430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258655	chromatin interactions
ENSG00000100852	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 57 )

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	rs1278946	chr14:32420188-32420189	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115739828	chr14:32420191-32420192	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529815182	chr14:32420199-32420200	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547928669	chr14:32420216-32420217	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190706062	chr14:32420223-32420224	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144045317	chr14:32420240-32420241	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574372703	chr14:32420246-32420247	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537085955	chr14:32420249-32420250	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146743376	chr14:32420279-32420280	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570790137	chr14:32420286-32420287	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139357081	chr14:32420301-32420302	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553149027	chr14:32420308-32420309	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574518909	chr14:32420309-32420310	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536755651	chr14:32420310-32420311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1278947	chr14:32420322-32420323	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:32413600-32420600	Enhancers	HMEC	breast
3	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:32416800-32420600	Enhancers	NHEK	skin
5	chr14:32418400-32420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:32418400-32422000	Enhancers	Placenta	Placenta
7	chr14:32418600-32420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:32418600-32420800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:32418600-32420800	Enhancers	NHDF-Ad	bronchial
10	chr14:32418800-32420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:32418800-32420600	Flanking Active TSS	A549	lung
12	chr14:32418800-32420800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:32418800-32421000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:32418800-32421000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:32418800-32421000	Enhancers	HSMMtube	muscle
16	chr14:32418800-32421200	Enhancers	Fetal Intestine Large	intestine
17	chr14:32418800-32421400	Enhancers	Stomach Mucosa	stomach
18	chr14:32418800-32422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:32418800-32422000	Enhancers	Fetal Stomach	stomach
20	chr14:32418800-32422400	Enhancers	K562	blood
21	chr14:32418800-32423600	Enhancers	Fetal Lung	lung
22	chr14:32419000-32420600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:32419000-32420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:32419000-32421000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:32419000-32421000	Enhancers	Fetal Intestine Small	intestine
26	chr14:32419000-32421000	Enhancers	NHLF	lung
27	chr14:32419000-32421200	Enhancers	Fetal Brain Male	brain
28	chr14:32419000-32421400	Enhancers	Fetal Heart	heart
29	chr14:32419200-32420200	Enhancers	Fetal Brain Female	brain
30	chr14:32419200-32420800	Enhancers	HSMM	muscle
31	chr14:32419200-32421000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:32419200-32421000	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:32419400-32420600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:32419400-32421000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:32419400-32421000	Enhancers	Brain Germinal Matrix	brain
36	chr14:32419400-32421000	Enhancers	Fetal Muscle Leg	muscle
37	chr14:32419400-32421200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:32419400-32421200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:32419400-32429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:32419600-32420200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:32419600-32420200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:32419600-32420400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:32419600-32420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:32419600-32420600	Enhancers	Colonic Mucosa	Colon
45	chr14:32419600-32420600	Enhancers	Small Intestine	intestine
46	chr14:32419600-32420600	Flanking Active TSS	Hela-S3	cervix
47	chr14:32419600-32420800	Enhancers	Colon Smooth Muscle	Colon
48	chr14:32419600-32420800	Bivalent Enhancer	HepG2	liver
49	chr14:32419600-32420800	Enhancers	NH-A	brain
50	chr14:32419600-32421000	Enhancers	H9 Cell Line	embryonic stem cell

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