Variant report

Variant	nsv901594
Chromosome Location	chr14:32772850-32786268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32775655..32778272-chr14:32848562..32851127,2	MCF-7	breast:
2	chr14:32775468..32778103-chr14:32779156..32781428,2	MCF-7	breast:
3	chr14:32775468..32778103-chr14:32779156..32781428,2	MCF-7	breast:
4	chr14:32775235..32777480-chr14:32786889..32788740,2	MCF-7	breast:
5	chr14:32783285..32786255-chr14:32826515..32829256,2	MCF-7	breast:
6	chr14:32766101..32767938-chr14:32771475..32774012,2	MCF-7	breast:
7	chr14:32776960..32777923-chr14:32978540..32979269,2	MCF-7	breast:

Extended variants
information (count: 537 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156735	chr14:32772850-32772851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561186097	chr14:32772886-32772887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375173615	chr14:32772902-32772903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368277297	chr14:32772973-32772974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386776174	chr14:32772975-32772976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577618956	chr14:32773011-32773012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10872861	chr14:32773052-32773053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184473032	chr14:32773058-32773059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372240344	chr14:32773062-32773063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532412695	chr14:32773110-32773111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80315197	chr14:32773112-32773113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527339942	chr14:32773187-32773188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61385810	chr14:32773231-32773232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536795698	chr14:32773282-32773283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190577909	chr14:32773288-32773289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140245086	chr14:32773321-32773322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537311558	chr14:32773458-32773459	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542918931	chr14:32773477-32773478	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370200508	chr14:32773483-32773484	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558904102	chr14:32773493-32773494	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536126773	chr14:32773520-32773521	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576729846	chr14:32773535-32773536	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115270437	chr14:32773540-32773541	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552979583	chr14:32773574-32773575	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574437207	chr14:32773603-32773604	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193143068	chr14:32773619-32773620	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs60234107	chr14:32773622-32773623	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576246125	chr14:32773741-32773742	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543668581	chr14:32773891-32773892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565241554	chr14:32773898-32773899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561136016	chr14:32773902-32773903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547468214	chr14:32773919-32773920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116722220	chr14:32773954-32773955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201280417	chr14:32773993-32773994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530117613	chr14:32774039-32774040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185273228	chr14:32774040-32774041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569831317	chr14:32774056-32774057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531662810	chr14:32774087-32774088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146489317	chr14:32774091-32774092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114413827	chr14:32774114-32774115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570652447	chr14:32774151-32774152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2383307	chr14:32774159-32774160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2383308	chr14:32774162-32774163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574401285	chr14:32774179-32774180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373351221	chr14:32774181-32774182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535144753	chr14:32774194-32774195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4573842	chr14:32774244-32774245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs188951803	chr14:32774246-32774247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543608135	chr14:32774247-32774248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565517151	chr14:32774269-32774270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32765200-32773600	Weak transcription	Pancreas	Pancrea
2	chr14:32768000-32780000	Weak transcription	Psoas Muscle	Psoas
3	chr14:32768200-32773400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:32768600-32776600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:32769800-32777200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:32769800-32780800	Weak transcription	Left Ventricle	heart
7	chr14:32770000-32773200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:32772200-32774000	Enhancers	Liver	Liver
9	chr14:32772400-32774000	Enhancers	Fetal Intestine Small	intestine
10	chr14:32772600-32773200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr14:32772800-32773600	Enhancers	Fetal Heart	heart
12	chr14:32772800-32773800	Enhancers	HepG2	liver
13	chr14:32772800-32778400	Enhancers	Fetal Intestine Large	intestine
14	chr14:32773000-32773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:32773200-32773400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:32773200-32774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:32773200-32774000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:32773200-32774000	Enhancers	Brain Hippocampus Middle	brain
19	chr14:32773400-32773800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:32773400-32774000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:32773600-32773800	Enhancers	Esophagus	oesophagus
22	chr14:32773600-32774000	Enhancers	Pancreas	Pancrea
23	chr14:32773600-32774400	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:32773600-32774400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:32773600-32774400	Enhancers	Brain Substantia Nigra	brain
26	chr14:32773600-32776800	Weak transcription	Fetal Heart	heart
27	chr14:32773800-32776200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:32773800-32776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:32773800-32776800	Weak transcription	HepG2	liver
30	chr14:32774000-32775400	Weak transcription	Fetal Intestine Small	intestine
31	chr14:32774000-32776400	Weak transcription	Liver	Liver
32	chr14:32774000-32778200	Weak transcription	Pancreas	Pancrea
33	chr14:32775400-32778400	Enhancers	Fetal Intestine Small	intestine
34	chr14:32775600-32777800	Enhancers	NHEK	skin
35	chr14:32775800-32776200	Enhancers	A549	lung
36	chr14:32775800-32777000	Enhancers	HMEC	breast
37	chr14:32775800-32777800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:32775800-32777800	Enhancers	Hela-S3	cervix
39	chr14:32776000-32776200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr14:32776000-32776800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:32776000-32777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:32776000-32777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:32776000-32777600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:32776200-32776400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr14:32776200-32776600	Weak transcription	A549	lung
46	chr14:32776400-32776800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:32776400-32778200	Enhancers	Liver	Liver
48	chr14:32776600-32776800	Enhancers	A549	lung
49	chr14:32776600-32777000	Enhancers	Esophagus	oesophagus
50	chr14:32776600-32777000	Enhancers	Rectal Smooth Muscle	rectum

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